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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs776035411

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:139114562-139114597 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
del(CA)10 / del(CA)9 / del(CA)8 / …

del(CA)10 / del(CA)9 / del(CA)8 / del(CA)7 / del(CA)6 / del(CA)5 / del(CA)4 / del(CA)3 / delCACA / delCA / dupCA / dupCACA / dup(CA)3 / dup(CA)4 / dup(CA)5 / dup(CA)6 / dup(CA)7 / dup(CA)8 / dup(CA)9 / dup(CA)10 / dup(CA)11 / dup(CA)12 / dup(CA)13 / dup(CA)14 / dup(CA)15 / dup(CA)18

Variation Type
Indel Insertion and Deletion
Frequency
dupCA=0.06587 (1848/28056, 14KJPN)
dup(CA)4=0.0997 (978/9813, ALFA)
dup(CA)4=0.063 (37/588, NorthernSweden)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ELF2 : Intron Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 9813 CACACACACACACACACACACACACACACACACACA=0.9003 CACACACACACACACA=0.0000, CACACACACACACACACA=0.0000, CACACACACACACACACACA=0.0000, CACACACACACACACACACACA=0.0000, CACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACA=0.0997, CACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000 0.931534 0.040812 0.027654 32
European Sub 7616 CACACACACACACACACACACACACACACACACACA=0.8717 CACACACACACACACA=0.0000, CACACACACACACACACA=0.0000, CACACACACACACACACACA=0.0000, CACACACACACACACACACACA=0.0000, CACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACA=0.1283, CACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000 0.909333 0.054046 0.036621 32
African Sub 1140 CACACACACACACACACACACACACACACACACACA=1.0000 CACACACACACACACA=0.0000, CACACACACACACACACA=0.0000, CACACACACACACACACACA=0.0000, CACACACACACACACACACACA=0.0000, CACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000 1.0 0.0 0.0 N/A
African Others Sub 44 CACACACACACACACACACACACACACACACACACA=1.00 CACACACACACACACA=0.00, CACACACACACACACACA=0.00, CACACACACACACACACACA=0.00, CACACACACACACACACACACA=0.00, CACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00 1.0 0.0 0.0 N/A
African American Sub 1096 CACACACACACACACACACACACACACACACACACA=1.0000 CACACACACACACACA=0.0000, CACACACACACACACACA=0.0000, CACACACACACACACACACA=0.0000, CACACACACACACACACACACA=0.0000, CACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000 1.0 0.0 0.0 N/A
Asian Sub 86 CACACACACACACACACACACACACACACACACACA=1.00 CACACACACACACACA=0.00, CACACACACACACACACA=0.00, CACACACACACACACACACA=0.00, CACACACACACACACACACACA=0.00, CACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 68 CACACACACACACACACACACACACACACACACACA=1.00 CACACACACACACACA=0.00, CACACACACACACACACA=0.00, CACACACACACACACACACA=0.00, CACACACACACACACACACACA=0.00, CACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 18 CACACACACACACACACACACACACACACACACACA=1.00 CACACACACACACACA=0.00, CACACACACACACACACA=0.00, CACACACACACACACACACA=0.00, CACACACACACACACACACACA=0.00, CACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 108 CACACACACACACACACACACACACACACACACACA=1.000 CACACACACACACACA=0.000, CACACACACACACACACA=0.000, CACACACACACACACACACA=0.000, CACACACACACACACACACACA=0.000, CACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 484 CACACACACACACACACACACACACACACACACACA=1.000 CACACACACACACACA=0.000, CACACACACACACACACA=0.000, CACACACACACACACACACA=0.000, CACACACACACACACACACACA=0.000, CACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 72 CACACACACACACACACACACACACACACACACACA=1.00 CACACACACACACACA=0.00, CACACACACACACACACA=0.00, CACACACACACACACACACA=0.00, CACACACACACACACACACACA=0.00, CACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00 1.0 0.0 0.0 N/A
Other Sub 307 CACACACACACACACACACACACACACACACACACA=0.997 CACACACACACACACA=0.000, CACACACACACACACACA=0.000, CACACACACACACACACACA=0.000, CACACACACACACACACACACA=0.000, CACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACA=0.003, CACACACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.000 1.0 0.0 0.0 N/A


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
14KJPN JAPANESE Study-wide 28056 -

No frequency provided

dupCA=0.06587
Allele Frequency Aggregator Total Global 9813 (CA)18=0.9003 del(CA)10=0.0000, del(CA)9=0.0000, del(CA)8=0.0000, del(CA)7=0.0000, del(CA)6=0.0000, del(CA)5=0.0000, del(CA)4=0.0000, del(CA)3=0.0000, delCACA=0.0000, delCA=0.0000, dupCA=0.0000, dupCACA=0.0000, dup(CA)3=0.0000, dup(CA)4=0.0997, dup(CA)5=0.0000, dup(CA)6=0.0000, dup(CA)7=0.0000, dup(CA)8=0.0000, dup(CA)9=0.0000, dup(CA)10=0.0000, dup(CA)11=0.0000, dup(CA)12=0.0000
Allele Frequency Aggregator European Sub 7616 (CA)18=0.8717 del(CA)10=0.0000, del(CA)9=0.0000, del(CA)8=0.0000, del(CA)7=0.0000, del(CA)6=0.0000, del(CA)5=0.0000, del(CA)4=0.0000, del(CA)3=0.0000, delCACA=0.0000, delCA=0.0000, dupCA=0.0000, dupCACA=0.0000, dup(CA)3=0.0000, dup(CA)4=0.1283, dup(CA)5=0.0000, dup(CA)6=0.0000, dup(CA)7=0.0000, dup(CA)8=0.0000, dup(CA)9=0.0000, dup(CA)10=0.0000, dup(CA)11=0.0000, dup(CA)12=0.0000
Allele Frequency Aggregator African Sub 1140 (CA)18=1.0000 del(CA)10=0.0000, del(CA)9=0.0000, del(CA)8=0.0000, del(CA)7=0.0000, del(CA)6=0.0000, del(CA)5=0.0000, del(CA)4=0.0000, del(CA)3=0.0000, delCACA=0.0000, delCA=0.0000, dupCA=0.0000, dupCACA=0.0000, dup(CA)3=0.0000, dup(CA)4=0.0000, dup(CA)5=0.0000, dup(CA)6=0.0000, dup(CA)7=0.0000, dup(CA)8=0.0000, dup(CA)9=0.0000, dup(CA)10=0.0000, dup(CA)11=0.0000, dup(CA)12=0.0000
Allele Frequency Aggregator Latin American 2 Sub 484 (CA)18=1.000 del(CA)10=0.000, del(CA)9=0.000, del(CA)8=0.000, del(CA)7=0.000, del(CA)6=0.000, del(CA)5=0.000, del(CA)4=0.000, del(CA)3=0.000, delCACA=0.000, delCA=0.000, dupCA=0.000, dupCACA=0.000, dup(CA)3=0.000, dup(CA)4=0.000, dup(CA)5=0.000, dup(CA)6=0.000, dup(CA)7=0.000, dup(CA)8=0.000, dup(CA)9=0.000, dup(CA)10=0.000, dup(CA)11=0.000, dup(CA)12=0.000
Allele Frequency Aggregator Other Sub 307 (CA)18=0.997 del(CA)10=0.000, del(CA)9=0.000, del(CA)8=0.000, del(CA)7=0.000, del(CA)6=0.000, del(CA)5=0.000, del(CA)4=0.000, del(CA)3=0.000, delCACA=0.000, delCA=0.000, dupCA=0.000, dupCACA=0.000, dup(CA)3=0.000, dup(CA)4=0.003, dup(CA)5=0.000, dup(CA)6=0.000, dup(CA)7=0.000, dup(CA)8=0.000, dup(CA)9=0.000, dup(CA)10=0.000, dup(CA)11=0.000, dup(CA)12=0.000
Allele Frequency Aggregator Latin American 1 Sub 108 (CA)18=1.000 del(CA)10=0.000, del(CA)9=0.000, del(CA)8=0.000, del(CA)7=0.000, del(CA)6=0.000, del(CA)5=0.000, del(CA)4=0.000, del(CA)3=0.000, delCACA=0.000, delCA=0.000, dupCA=0.000, dupCACA=0.000, dup(CA)3=0.000, dup(CA)4=0.000, dup(CA)5=0.000, dup(CA)6=0.000, dup(CA)7=0.000, dup(CA)8=0.000, dup(CA)9=0.000, dup(CA)10=0.000, dup(CA)11=0.000, dup(CA)12=0.000
Allele Frequency Aggregator Asian Sub 86 (CA)18=1.00 del(CA)10=0.00, del(CA)9=0.00, del(CA)8=0.00, del(CA)7=0.00, del(CA)6=0.00, del(CA)5=0.00, del(CA)4=0.00, del(CA)3=0.00, delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)3=0.00, dup(CA)4=0.00, dup(CA)5=0.00, dup(CA)6=0.00, dup(CA)7=0.00, dup(CA)8=0.00, dup(CA)9=0.00, dup(CA)10=0.00, dup(CA)11=0.00, dup(CA)12=0.00
Allele Frequency Aggregator South Asian Sub 72 (CA)18=1.00 del(CA)10=0.00, del(CA)9=0.00, del(CA)8=0.00, del(CA)7=0.00, del(CA)6=0.00, del(CA)5=0.00, del(CA)4=0.00, del(CA)3=0.00, delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)3=0.00, dup(CA)4=0.00, dup(CA)5=0.00, dup(CA)6=0.00, dup(CA)7=0.00, dup(CA)8=0.00, dup(CA)9=0.00, dup(CA)10=0.00, dup(CA)11=0.00, dup(CA)12=0.00
Northern Sweden ACPOP Study-wide 588 -

No frequency provided

dup(CA)4=0.063
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 4 NC_000004.12:g.139114562CA[8]
GRCh38.p14 chr 4 NC_000004.12:g.139114562CA[9]
GRCh38.p14 chr 4 NC_000004.12:g.139114562CA[10]
GRCh38.p14 chr 4 NC_000004.12:g.139114562CA[11]
GRCh38.p14 chr 4 NC_000004.12:g.139114562CA[12]
GRCh38.p14 chr 4 NC_000004.12:g.139114562CA[13]
GRCh38.p14 chr 4 NC_000004.12:g.139114562CA[14]
GRCh38.p14 chr 4 NC_000004.12:g.139114562CA[15]
GRCh38.p14 chr 4 NC_000004.12:g.139114562CA[16]
GRCh38.p14 chr 4 NC_000004.12:g.139114562CA[17]
GRCh38.p14 chr 4 NC_000004.12:g.139114562CA[19]
GRCh38.p14 chr 4 NC_000004.12:g.139114562CA[20]
GRCh38.p14 chr 4 NC_000004.12:g.139114562CA[21]
GRCh38.p14 chr 4 NC_000004.12:g.139114562CA[22]
GRCh38.p14 chr 4 NC_000004.12:g.139114562CA[23]
GRCh38.p14 chr 4 NC_000004.12:g.139114562CA[24]
GRCh38.p14 chr 4 NC_000004.12:g.139114562CA[25]
GRCh38.p14 chr 4 NC_000004.12:g.139114562CA[26]
GRCh38.p14 chr 4 NC_000004.12:g.139114562CA[27]
GRCh38.p14 chr 4 NC_000004.12:g.139114562CA[28]
GRCh38.p14 chr 4 NC_000004.12:g.139114562CA[29]
GRCh38.p14 chr 4 NC_000004.12:g.139114562CA[30]
GRCh38.p14 chr 4 NC_000004.12:g.139114562CA[31]
GRCh38.p14 chr 4 NC_000004.12:g.139114562CA[32]
GRCh38.p14 chr 4 NC_000004.12:g.139114562CA[33]
GRCh38.p14 chr 4 NC_000004.12:g.139114562CA[36]
GRCh37.p13 chr 4 NC_000004.11:g.140035716CA[8]
GRCh37.p13 chr 4 NC_000004.11:g.140035716CA[9]
GRCh37.p13 chr 4 NC_000004.11:g.140035716CA[10]
GRCh37.p13 chr 4 NC_000004.11:g.140035716CA[11]
GRCh37.p13 chr 4 NC_000004.11:g.140035716CA[12]
GRCh37.p13 chr 4 NC_000004.11:g.140035716CA[13]
GRCh37.p13 chr 4 NC_000004.11:g.140035716CA[14]
GRCh37.p13 chr 4 NC_000004.11:g.140035716CA[15]
GRCh37.p13 chr 4 NC_000004.11:g.140035716CA[16]
GRCh37.p13 chr 4 NC_000004.11:g.140035716CA[17]
GRCh37.p13 chr 4 NC_000004.11:g.140035716CA[19]
GRCh37.p13 chr 4 NC_000004.11:g.140035716CA[20]
GRCh37.p13 chr 4 NC_000004.11:g.140035716CA[21]
GRCh37.p13 chr 4 NC_000004.11:g.140035716CA[22]
GRCh37.p13 chr 4 NC_000004.11:g.140035716CA[23]
GRCh37.p13 chr 4 NC_000004.11:g.140035716CA[24]
GRCh37.p13 chr 4 NC_000004.11:g.140035716CA[25]
GRCh37.p13 chr 4 NC_000004.11:g.140035716CA[26]
GRCh37.p13 chr 4 NC_000004.11:g.140035716CA[27]
GRCh37.p13 chr 4 NC_000004.11:g.140035716CA[28]
GRCh37.p13 chr 4 NC_000004.11:g.140035716CA[29]
GRCh37.p13 chr 4 NC_000004.11:g.140035716CA[30]
GRCh37.p13 chr 4 NC_000004.11:g.140035716CA[31]
GRCh37.p13 chr 4 NC_000004.11:g.140035716CA[32]
GRCh37.p13 chr 4 NC_000004.11:g.140035716CA[33]
GRCh37.p13 chr 4 NC_000004.11:g.140035716CA[36]
Gene: ELF2, E74 like ETS transcription factor 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ELF2 transcript variant 6 NM_001331036.3:c.238+1056…

NM_001331036.3:c.238+10567TG[8]

N/A Intron Variant
ELF2 transcript variant 7 NM_001371324.1:c.238+1056…

NM_001371324.1:c.238+10567TG[8]

N/A Intron Variant
ELF2 transcript variant 8 NM_001371336.1:c.238+1056…

NM_001371336.1:c.238+10567TG[8]

N/A Intron Variant
ELF2 transcript variant 9 NM_001371337.1:c.-75+2052…

NM_001371337.1:c.-75+2052TG[8]

N/A Intron Variant
ELF2 transcript variant 10 NM_001371338.1:c.-75+2052…

NM_001371338.1:c.-75+2052TG[8]

N/A Intron Variant
ELF2 transcript variant 11 NM_001371339.1:c.-75+2052…

NM_001371339.1:c.-75+2052TG[8]

N/A Intron Variant
ELF2 transcript variant 1 NM_201999.3:c.238+10567TG…

NM_201999.3:c.238+10567TG[8]

N/A Intron Variant
ELF2 transcript variant 3 NM_001276457.2:c. N/A Genic Upstream Transcript Variant
ELF2 transcript variant 4 NM_001276458.3:c. N/A Genic Upstream Transcript Variant
ELF2 transcript variant 5 NM_001276459.3:c. N/A Genic Upstream Transcript Variant
ELF2 transcript variant 2 NM_006874.5:c. N/A Genic Upstream Transcript Variant
ELF2 transcript variant X10 XM_005262805.3:c.238+1056…

XM_005262805.3:c.238+10567TG[8]

N/A Intron Variant
ELF2 transcript variant X11 XM_011531711.3:c.-75+2052…

XM_011531711.3:c.-75+2052TG[8]

N/A Intron Variant
ELF2 transcript variant X1 XM_047449732.1:c.238+1056…

XM_047449732.1:c.238+10567TG[8]

N/A Intron Variant
ELF2 transcript variant X2 XM_047449733.1:c.238+1056…

XM_047449733.1:c.238+10567TG[8]

N/A Intron Variant
ELF2 transcript variant X3 XM_047449734.1:c.238+1056…

XM_047449734.1:c.238+10567TG[8]

N/A Intron Variant
ELF2 transcript variant X4 XM_047449736.1:c.238+1056…

XM_047449736.1:c.238+10567TG[8]

N/A Intron Variant
ELF2 transcript variant X5 XM_047449737.1:c.238+1056…

XM_047449737.1:c.238+10567TG[8]

N/A Intron Variant
ELF2 transcript variant X6 XM_047449738.1:c.238+1056…

XM_047449738.1:c.238+10567TG[8]

N/A Intron Variant
ELF2 transcript variant X7 XM_047449739.1:c.238+1056…

XM_047449739.1:c.238+10567TG[8]

N/A Intron Variant
ELF2 transcript variant X8 XM_047449740.1:c.238+1056…

XM_047449740.1:c.238+10567TG[8]

N/A Intron Variant
ELF2 transcript variant X9 XM_047449741.1:c.238+1056…

XM_047449741.1:c.238+10567TG[8]

N/A Intron Variant
ELF2 transcript variant X13 XM_011531714.3:c. N/A Genic Upstream Transcript Variant
ELF2 transcript variant X12 XM_047449742.1:c. N/A Genic Upstream Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement (CA)18= del(CA)10 del(CA)9 del(CA)8 del(CA)7 del(CA)6 del(CA)5 del(CA)4 del(CA)3 delCACA delCA dupCA dupCACA dup(CA)3 dup(CA)4 dup(CA)5 dup(CA)6 dup(CA)7 dup(CA)8 dup(CA)9 dup(CA)10 dup(CA)11 dup(CA)12 dup(CA)13 dup(CA)14 dup(CA)15 dup(CA)18
GRCh38.p14 chr 4 NC_000004.12:g.139114562_139114597= NC_000004.12:g.139114562CA[8] NC_000004.12:g.139114562CA[9] NC_000004.12:g.139114562CA[10] NC_000004.12:g.139114562CA[11] NC_000004.12:g.139114562CA[12] NC_000004.12:g.139114562CA[13] NC_000004.12:g.139114562CA[14] NC_000004.12:g.139114562CA[15] NC_000004.12:g.139114562CA[16] NC_000004.12:g.139114562CA[17] NC_000004.12:g.139114562CA[19] NC_000004.12:g.139114562CA[20] NC_000004.12:g.139114562CA[21] NC_000004.12:g.139114562CA[22] NC_000004.12:g.139114562CA[23] NC_000004.12:g.139114562CA[24] NC_000004.12:g.139114562CA[25] NC_000004.12:g.139114562CA[26] NC_000004.12:g.139114562CA[27] NC_000004.12:g.139114562CA[28] NC_000004.12:g.139114562CA[29] NC_000004.12:g.139114562CA[30] NC_000004.12:g.139114562CA[31] NC_000004.12:g.139114562CA[32] NC_000004.12:g.139114562CA[33] NC_000004.12:g.139114562CA[36]
GRCh37.p13 chr 4 NC_000004.11:g.140035716_140035751= NC_000004.11:g.140035716CA[8] NC_000004.11:g.140035716CA[9] NC_000004.11:g.140035716CA[10] NC_000004.11:g.140035716CA[11] NC_000004.11:g.140035716CA[12] NC_000004.11:g.140035716CA[13] NC_000004.11:g.140035716CA[14] NC_000004.11:g.140035716CA[15] NC_000004.11:g.140035716CA[16] NC_000004.11:g.140035716CA[17] NC_000004.11:g.140035716CA[19] NC_000004.11:g.140035716CA[20] NC_000004.11:g.140035716CA[21] NC_000004.11:g.140035716CA[22] NC_000004.11:g.140035716CA[23] NC_000004.11:g.140035716CA[24] NC_000004.11:g.140035716CA[25] NC_000004.11:g.140035716CA[26] NC_000004.11:g.140035716CA[27] NC_000004.11:g.140035716CA[28] NC_000004.11:g.140035716CA[29] NC_000004.11:g.140035716CA[30] NC_000004.11:g.140035716CA[31] NC_000004.11:g.140035716CA[32] NC_000004.11:g.140035716CA[33] NC_000004.11:g.140035716CA[36]
ELF2 transcript variant 6 NM_001331036.3:c.238+10602= NM_001331036.3:c.238+10567TG[8] NM_001331036.3:c.238+10567TG[9] NM_001331036.3:c.238+10567TG[10] NM_001331036.3:c.238+10567TG[11] NM_001331036.3:c.238+10567TG[12] NM_001331036.3:c.238+10567TG[13] NM_001331036.3:c.238+10567TG[14] NM_001331036.3:c.238+10567TG[15] NM_001331036.3:c.238+10567TG[16] NM_001331036.3:c.238+10567TG[17] NM_001331036.3:c.238+10567TG[19] NM_001331036.3:c.238+10567TG[20] NM_001331036.3:c.238+10567TG[21] NM_001331036.3:c.238+10567TG[22] NM_001331036.3:c.238+10567TG[23] NM_001331036.3:c.238+10567TG[24] NM_001331036.3:c.238+10567TG[25] NM_001331036.3:c.238+10567TG[26] NM_001331036.3:c.238+10567TG[27] NM_001331036.3:c.238+10567TG[28] NM_001331036.3:c.238+10567TG[29] NM_001331036.3:c.238+10567TG[30] NM_001331036.3:c.238+10567TG[31] NM_001331036.3:c.238+10567TG[32] NM_001331036.3:c.238+10567TG[33] NM_001331036.3:c.238+10567TG[36]
ELF2 transcript variant 7 NM_001371324.1:c.238+10602= NM_001371324.1:c.238+10567TG[8] NM_001371324.1:c.238+10567TG[9] NM_001371324.1:c.238+10567TG[10] NM_001371324.1:c.238+10567TG[11] NM_001371324.1:c.238+10567TG[12] NM_001371324.1:c.238+10567TG[13] NM_001371324.1:c.238+10567TG[14] NM_001371324.1:c.238+10567TG[15] NM_001371324.1:c.238+10567TG[16] NM_001371324.1:c.238+10567TG[17] NM_001371324.1:c.238+10567TG[19] NM_001371324.1:c.238+10567TG[20] NM_001371324.1:c.238+10567TG[21] NM_001371324.1:c.238+10567TG[22] NM_001371324.1:c.238+10567TG[23] NM_001371324.1:c.238+10567TG[24] NM_001371324.1:c.238+10567TG[25] NM_001371324.1:c.238+10567TG[26] NM_001371324.1:c.238+10567TG[27] NM_001371324.1:c.238+10567TG[28] NM_001371324.1:c.238+10567TG[29] NM_001371324.1:c.238+10567TG[30] NM_001371324.1:c.238+10567TG[31] NM_001371324.1:c.238+10567TG[32] NM_001371324.1:c.238+10567TG[33] NM_001371324.1:c.238+10567TG[36]
ELF2 transcript variant 8 NM_001371336.1:c.238+10602= NM_001371336.1:c.238+10567TG[8] NM_001371336.1:c.238+10567TG[9] NM_001371336.1:c.238+10567TG[10] NM_001371336.1:c.238+10567TG[11] NM_001371336.1:c.238+10567TG[12] NM_001371336.1:c.238+10567TG[13] NM_001371336.1:c.238+10567TG[14] NM_001371336.1:c.238+10567TG[15] NM_001371336.1:c.238+10567TG[16] NM_001371336.1:c.238+10567TG[17] NM_001371336.1:c.238+10567TG[19] NM_001371336.1:c.238+10567TG[20] NM_001371336.1:c.238+10567TG[21] NM_001371336.1:c.238+10567TG[22] NM_001371336.1:c.238+10567TG[23] NM_001371336.1:c.238+10567TG[24] NM_001371336.1:c.238+10567TG[25] NM_001371336.1:c.238+10567TG[26] NM_001371336.1:c.238+10567TG[27] NM_001371336.1:c.238+10567TG[28] NM_001371336.1:c.238+10567TG[29] NM_001371336.1:c.238+10567TG[30] NM_001371336.1:c.238+10567TG[31] NM_001371336.1:c.238+10567TG[32] NM_001371336.1:c.238+10567TG[33] NM_001371336.1:c.238+10567TG[36]
ELF2 transcript variant 9 NM_001371337.1:c.-75+2087= NM_001371337.1:c.-75+2052TG[8] NM_001371337.1:c.-75+2052TG[9] NM_001371337.1:c.-75+2052TG[10] NM_001371337.1:c.-75+2052TG[11] NM_001371337.1:c.-75+2052TG[12] NM_001371337.1:c.-75+2052TG[13] NM_001371337.1:c.-75+2052TG[14] NM_001371337.1:c.-75+2052TG[15] NM_001371337.1:c.-75+2052TG[16] NM_001371337.1:c.-75+2052TG[17] NM_001371337.1:c.-75+2052TG[19] NM_001371337.1:c.-75+2052TG[20] NM_001371337.1:c.-75+2052TG[21] NM_001371337.1:c.-75+2052TG[22] NM_001371337.1:c.-75+2052TG[23] NM_001371337.1:c.-75+2052TG[24] NM_001371337.1:c.-75+2052TG[25] NM_001371337.1:c.-75+2052TG[26] NM_001371337.1:c.-75+2052TG[27] NM_001371337.1:c.-75+2052TG[28] NM_001371337.1:c.-75+2052TG[29] NM_001371337.1:c.-75+2052TG[30] NM_001371337.1:c.-75+2052TG[31] NM_001371337.1:c.-75+2052TG[32] NM_001371337.1:c.-75+2052TG[33] NM_001371337.1:c.-75+2052TG[36]
ELF2 transcript variant 10 NM_001371338.1:c.-75+2087= NM_001371338.1:c.-75+2052TG[8] NM_001371338.1:c.-75+2052TG[9] NM_001371338.1:c.-75+2052TG[10] NM_001371338.1:c.-75+2052TG[11] NM_001371338.1:c.-75+2052TG[12] NM_001371338.1:c.-75+2052TG[13] NM_001371338.1:c.-75+2052TG[14] NM_001371338.1:c.-75+2052TG[15] NM_001371338.1:c.-75+2052TG[16] NM_001371338.1:c.-75+2052TG[17] NM_001371338.1:c.-75+2052TG[19] NM_001371338.1:c.-75+2052TG[20] NM_001371338.1:c.-75+2052TG[21] NM_001371338.1:c.-75+2052TG[22] NM_001371338.1:c.-75+2052TG[23] NM_001371338.1:c.-75+2052TG[24] NM_001371338.1:c.-75+2052TG[25] NM_001371338.1:c.-75+2052TG[26] NM_001371338.1:c.-75+2052TG[27] NM_001371338.1:c.-75+2052TG[28] NM_001371338.1:c.-75+2052TG[29] NM_001371338.1:c.-75+2052TG[30] NM_001371338.1:c.-75+2052TG[31] NM_001371338.1:c.-75+2052TG[32] NM_001371338.1:c.-75+2052TG[33] NM_001371338.1:c.-75+2052TG[36]
ELF2 transcript variant 11 NM_001371339.1:c.-75+2087= NM_001371339.1:c.-75+2052TG[8] NM_001371339.1:c.-75+2052TG[9] NM_001371339.1:c.-75+2052TG[10] NM_001371339.1:c.-75+2052TG[11] NM_001371339.1:c.-75+2052TG[12] NM_001371339.1:c.-75+2052TG[13] NM_001371339.1:c.-75+2052TG[14] NM_001371339.1:c.-75+2052TG[15] NM_001371339.1:c.-75+2052TG[16] NM_001371339.1:c.-75+2052TG[17] NM_001371339.1:c.-75+2052TG[19] NM_001371339.1:c.-75+2052TG[20] NM_001371339.1:c.-75+2052TG[21] NM_001371339.1:c.-75+2052TG[22] NM_001371339.1:c.-75+2052TG[23] NM_001371339.1:c.-75+2052TG[24] NM_001371339.1:c.-75+2052TG[25] NM_001371339.1:c.-75+2052TG[26] NM_001371339.1:c.-75+2052TG[27] NM_001371339.1:c.-75+2052TG[28] NM_001371339.1:c.-75+2052TG[29] NM_001371339.1:c.-75+2052TG[30] NM_001371339.1:c.-75+2052TG[31] NM_001371339.1:c.-75+2052TG[32] NM_001371339.1:c.-75+2052TG[33] NM_001371339.1:c.-75+2052TG[36]
ELF2 transcript variant 1 NM_201999.2:c.238+10602= NM_201999.2:c.238+10567TG[8] NM_201999.2:c.238+10567TG[9] NM_201999.2:c.238+10567TG[10] NM_201999.2:c.238+10567TG[11] NM_201999.2:c.238+10567TG[12] NM_201999.2:c.238+10567TG[13] NM_201999.2:c.238+10567TG[14] NM_201999.2:c.238+10567TG[15] NM_201999.2:c.238+10567TG[16] NM_201999.2:c.238+10567TG[17] NM_201999.2:c.238+10567TG[19] NM_201999.2:c.238+10567TG[20] NM_201999.2:c.238+10567TG[21] NM_201999.2:c.238+10567TG[22] NM_201999.2:c.238+10567TG[23] NM_201999.2:c.238+10567TG[24] NM_201999.2:c.238+10567TG[25] NM_201999.2:c.238+10567TG[26] NM_201999.2:c.238+10567TG[27] NM_201999.2:c.238+10567TG[28] NM_201999.2:c.238+10567TG[29] NM_201999.2:c.238+10567TG[30] NM_201999.2:c.238+10567TG[31] NM_201999.2:c.238+10567TG[32] NM_201999.2:c.238+10567TG[33] NM_201999.2:c.238+10567TG[36]
ELF2 transcript variant 1 NM_201999.3:c.238+10602= NM_201999.3:c.238+10567TG[8] NM_201999.3:c.238+10567TG[9] NM_201999.3:c.238+10567TG[10] NM_201999.3:c.238+10567TG[11] NM_201999.3:c.238+10567TG[12] NM_201999.3:c.238+10567TG[13] NM_201999.3:c.238+10567TG[14] NM_201999.3:c.238+10567TG[15] NM_201999.3:c.238+10567TG[16] NM_201999.3:c.238+10567TG[17] NM_201999.3:c.238+10567TG[19] NM_201999.3:c.238+10567TG[20] NM_201999.3:c.238+10567TG[21] NM_201999.3:c.238+10567TG[22] NM_201999.3:c.238+10567TG[23] NM_201999.3:c.238+10567TG[24] NM_201999.3:c.238+10567TG[25] NM_201999.3:c.238+10567TG[26] NM_201999.3:c.238+10567TG[27] NM_201999.3:c.238+10567TG[28] NM_201999.3:c.238+10567TG[29] NM_201999.3:c.238+10567TG[30] NM_201999.3:c.238+10567TG[31] NM_201999.3:c.238+10567TG[32] NM_201999.3:c.238+10567TG[33] NM_201999.3:c.238+10567TG[36]
ELF2 transcript variant X1 XM_005262803.1:c.238+10602= XM_005262803.1:c.238+10567TG[8] XM_005262803.1:c.238+10567TG[9] XM_005262803.1:c.238+10567TG[10] XM_005262803.1:c.238+10567TG[11] XM_005262803.1:c.238+10567TG[12] XM_005262803.1:c.238+10567TG[13] XM_005262803.1:c.238+10567TG[14] XM_005262803.1:c.238+10567TG[15] XM_005262803.1:c.238+10567TG[16] XM_005262803.1:c.238+10567TG[17] XM_005262803.1:c.238+10567TG[19] XM_005262803.1:c.238+10567TG[20] XM_005262803.1:c.238+10567TG[21] XM_005262803.1:c.238+10567TG[22] XM_005262803.1:c.238+10567TG[23] XM_005262803.1:c.238+10567TG[24] XM_005262803.1:c.238+10567TG[25] XM_005262803.1:c.238+10567TG[26] XM_005262803.1:c.238+10567TG[27] XM_005262803.1:c.238+10567TG[28] XM_005262803.1:c.238+10567TG[29] XM_005262803.1:c.238+10567TG[30] XM_005262803.1:c.238+10567TG[31] XM_005262803.1:c.238+10567TG[32] XM_005262803.1:c.238+10567TG[33] XM_005262803.1:c.238+10567TG[36]
ELF2 transcript variant X2 XM_005262804.1:c.238+10602= XM_005262804.1:c.238+10567TG[8] XM_005262804.1:c.238+10567TG[9] XM_005262804.1:c.238+10567TG[10] XM_005262804.1:c.238+10567TG[11] XM_005262804.1:c.238+10567TG[12] XM_005262804.1:c.238+10567TG[13] XM_005262804.1:c.238+10567TG[14] XM_005262804.1:c.238+10567TG[15] XM_005262804.1:c.238+10567TG[16] XM_005262804.1:c.238+10567TG[17] XM_005262804.1:c.238+10567TG[19] XM_005262804.1:c.238+10567TG[20] XM_005262804.1:c.238+10567TG[21] XM_005262804.1:c.238+10567TG[22] XM_005262804.1:c.238+10567TG[23] XM_005262804.1:c.238+10567TG[24] XM_005262804.1:c.238+10567TG[25] XM_005262804.1:c.238+10567TG[26] XM_005262804.1:c.238+10567TG[27] XM_005262804.1:c.238+10567TG[28] XM_005262804.1:c.238+10567TG[29] XM_005262804.1:c.238+10567TG[30] XM_005262804.1:c.238+10567TG[31] XM_005262804.1:c.238+10567TG[32] XM_005262804.1:c.238+10567TG[33] XM_005262804.1:c.238+10567TG[36]
ELF2 transcript variant X4 XM_005262805.1:c.238+10602= XM_005262805.1:c.238+10567TG[8] XM_005262805.1:c.238+10567TG[9] XM_005262805.1:c.238+10567TG[10] XM_005262805.1:c.238+10567TG[11] XM_005262805.1:c.238+10567TG[12] XM_005262805.1:c.238+10567TG[13] XM_005262805.1:c.238+10567TG[14] XM_005262805.1:c.238+10567TG[15] XM_005262805.1:c.238+10567TG[16] XM_005262805.1:c.238+10567TG[17] XM_005262805.1:c.238+10567TG[19] XM_005262805.1:c.238+10567TG[20] XM_005262805.1:c.238+10567TG[21] XM_005262805.1:c.238+10567TG[22] XM_005262805.1:c.238+10567TG[23] XM_005262805.1:c.238+10567TG[24] XM_005262805.1:c.238+10567TG[25] XM_005262805.1:c.238+10567TG[26] XM_005262805.1:c.238+10567TG[27] XM_005262805.1:c.238+10567TG[28] XM_005262805.1:c.238+10567TG[29] XM_005262805.1:c.238+10567TG[30] XM_005262805.1:c.238+10567TG[31] XM_005262805.1:c.238+10567TG[32] XM_005262805.1:c.238+10567TG[33] XM_005262805.1:c.238+10567TG[36]
ELF2 transcript variant X10 XM_005262805.3:c.238+10602= XM_005262805.3:c.238+10567TG[8] XM_005262805.3:c.238+10567TG[9] XM_005262805.3:c.238+10567TG[10] XM_005262805.3:c.238+10567TG[11] XM_005262805.3:c.238+10567TG[12] XM_005262805.3:c.238+10567TG[13] XM_005262805.3:c.238+10567TG[14] XM_005262805.3:c.238+10567TG[15] XM_005262805.3:c.238+10567TG[16] XM_005262805.3:c.238+10567TG[17] XM_005262805.3:c.238+10567TG[19] XM_005262805.3:c.238+10567TG[20] XM_005262805.3:c.238+10567TG[21] XM_005262805.3:c.238+10567TG[22] XM_005262805.3:c.238+10567TG[23] XM_005262805.3:c.238+10567TG[24] XM_005262805.3:c.238+10567TG[25] XM_005262805.3:c.238+10567TG[26] XM_005262805.3:c.238+10567TG[27] XM_005262805.3:c.238+10567TG[28] XM_005262805.3:c.238+10567TG[29] XM_005262805.3:c.238+10567TG[30] XM_005262805.3:c.238+10567TG[31] XM_005262805.3:c.238+10567TG[32] XM_005262805.3:c.238+10567TG[33] XM_005262805.3:c.238+10567TG[36]
ELF2 transcript variant X4 XM_005262806.1:c.-75+2087= XM_005262806.1:c.-75+2052TG[8] XM_005262806.1:c.-75+2052TG[9] XM_005262806.1:c.-75+2052TG[10] XM_005262806.1:c.-75+2052TG[11] XM_005262806.1:c.-75+2052TG[12] XM_005262806.1:c.-75+2052TG[13] XM_005262806.1:c.-75+2052TG[14] XM_005262806.1:c.-75+2052TG[15] XM_005262806.1:c.-75+2052TG[16] XM_005262806.1:c.-75+2052TG[17] XM_005262806.1:c.-75+2052TG[19] XM_005262806.1:c.-75+2052TG[20] XM_005262806.1:c.-75+2052TG[21] XM_005262806.1:c.-75+2052TG[22] XM_005262806.1:c.-75+2052TG[23] XM_005262806.1:c.-75+2052TG[24] XM_005262806.1:c.-75+2052TG[25] XM_005262806.1:c.-75+2052TG[26] XM_005262806.1:c.-75+2052TG[27] XM_005262806.1:c.-75+2052TG[28] XM_005262806.1:c.-75+2052TG[29] XM_005262806.1:c.-75+2052TG[30] XM_005262806.1:c.-75+2052TG[31] XM_005262806.1:c.-75+2052TG[32] XM_005262806.1:c.-75+2052TG[33] XM_005262806.1:c.-75+2052TG[36]
ELF2 transcript variant X11 XM_011531711.3:c.-75+2087= XM_011531711.3:c.-75+2052TG[8] XM_011531711.3:c.-75+2052TG[9] XM_011531711.3:c.-75+2052TG[10] XM_011531711.3:c.-75+2052TG[11] XM_011531711.3:c.-75+2052TG[12] XM_011531711.3:c.-75+2052TG[13] XM_011531711.3:c.-75+2052TG[14] XM_011531711.3:c.-75+2052TG[15] XM_011531711.3:c.-75+2052TG[16] XM_011531711.3:c.-75+2052TG[17] XM_011531711.3:c.-75+2052TG[19] XM_011531711.3:c.-75+2052TG[20] XM_011531711.3:c.-75+2052TG[21] XM_011531711.3:c.-75+2052TG[22] XM_011531711.3:c.-75+2052TG[23] XM_011531711.3:c.-75+2052TG[24] XM_011531711.3:c.-75+2052TG[25] XM_011531711.3:c.-75+2052TG[26] XM_011531711.3:c.-75+2052TG[27] XM_011531711.3:c.-75+2052TG[28] XM_011531711.3:c.-75+2052TG[29] XM_011531711.3:c.-75+2052TG[30] XM_011531711.3:c.-75+2052TG[31] XM_011531711.3:c.-75+2052TG[32] XM_011531711.3:c.-75+2052TG[33] XM_011531711.3:c.-75+2052TG[36]
ELF2 transcript variant X1 XM_047449732.1:c.238+10602= XM_047449732.1:c.238+10567TG[8] XM_047449732.1:c.238+10567TG[9] XM_047449732.1:c.238+10567TG[10] XM_047449732.1:c.238+10567TG[11] XM_047449732.1:c.238+10567TG[12] XM_047449732.1:c.238+10567TG[13] XM_047449732.1:c.238+10567TG[14] XM_047449732.1:c.238+10567TG[15] XM_047449732.1:c.238+10567TG[16] XM_047449732.1:c.238+10567TG[17] XM_047449732.1:c.238+10567TG[19] XM_047449732.1:c.238+10567TG[20] XM_047449732.1:c.238+10567TG[21] XM_047449732.1:c.238+10567TG[22] XM_047449732.1:c.238+10567TG[23] XM_047449732.1:c.238+10567TG[24] XM_047449732.1:c.238+10567TG[25] XM_047449732.1:c.238+10567TG[26] XM_047449732.1:c.238+10567TG[27] XM_047449732.1:c.238+10567TG[28] XM_047449732.1:c.238+10567TG[29] XM_047449732.1:c.238+10567TG[30] XM_047449732.1:c.238+10567TG[31] XM_047449732.1:c.238+10567TG[32] XM_047449732.1:c.238+10567TG[33] XM_047449732.1:c.238+10567TG[36]
ELF2 transcript variant X2 XM_047449733.1:c.238+10602= XM_047449733.1:c.238+10567TG[8] XM_047449733.1:c.238+10567TG[9] XM_047449733.1:c.238+10567TG[10] XM_047449733.1:c.238+10567TG[11] XM_047449733.1:c.238+10567TG[12] XM_047449733.1:c.238+10567TG[13] XM_047449733.1:c.238+10567TG[14] XM_047449733.1:c.238+10567TG[15] XM_047449733.1:c.238+10567TG[16] XM_047449733.1:c.238+10567TG[17] XM_047449733.1:c.238+10567TG[19] XM_047449733.1:c.238+10567TG[20] XM_047449733.1:c.238+10567TG[21] XM_047449733.1:c.238+10567TG[22] XM_047449733.1:c.238+10567TG[23] XM_047449733.1:c.238+10567TG[24] XM_047449733.1:c.238+10567TG[25] XM_047449733.1:c.238+10567TG[26] XM_047449733.1:c.238+10567TG[27] XM_047449733.1:c.238+10567TG[28] XM_047449733.1:c.238+10567TG[29] XM_047449733.1:c.238+10567TG[30] XM_047449733.1:c.238+10567TG[31] XM_047449733.1:c.238+10567TG[32] XM_047449733.1:c.238+10567TG[33] XM_047449733.1:c.238+10567TG[36]
ELF2 transcript variant X3 XM_047449734.1:c.238+10602= XM_047449734.1:c.238+10567TG[8] XM_047449734.1:c.238+10567TG[9] XM_047449734.1:c.238+10567TG[10] XM_047449734.1:c.238+10567TG[11] XM_047449734.1:c.238+10567TG[12] XM_047449734.1:c.238+10567TG[13] XM_047449734.1:c.238+10567TG[14] XM_047449734.1:c.238+10567TG[15] XM_047449734.1:c.238+10567TG[16] XM_047449734.1:c.238+10567TG[17] XM_047449734.1:c.238+10567TG[19] XM_047449734.1:c.238+10567TG[20] XM_047449734.1:c.238+10567TG[21] XM_047449734.1:c.238+10567TG[22] XM_047449734.1:c.238+10567TG[23] XM_047449734.1:c.238+10567TG[24] XM_047449734.1:c.238+10567TG[25] XM_047449734.1:c.238+10567TG[26] XM_047449734.1:c.238+10567TG[27] XM_047449734.1:c.238+10567TG[28] XM_047449734.1:c.238+10567TG[29] XM_047449734.1:c.238+10567TG[30] XM_047449734.1:c.238+10567TG[31] XM_047449734.1:c.238+10567TG[32] XM_047449734.1:c.238+10567TG[33] XM_047449734.1:c.238+10567TG[36]
ELF2 transcript variant X4 XM_047449736.1:c.238+10602= XM_047449736.1:c.238+10567TG[8] XM_047449736.1:c.238+10567TG[9] XM_047449736.1:c.238+10567TG[10] XM_047449736.1:c.238+10567TG[11] XM_047449736.1:c.238+10567TG[12] XM_047449736.1:c.238+10567TG[13] XM_047449736.1:c.238+10567TG[14] XM_047449736.1:c.238+10567TG[15] XM_047449736.1:c.238+10567TG[16] XM_047449736.1:c.238+10567TG[17] XM_047449736.1:c.238+10567TG[19] XM_047449736.1:c.238+10567TG[20] XM_047449736.1:c.238+10567TG[21] XM_047449736.1:c.238+10567TG[22] XM_047449736.1:c.238+10567TG[23] XM_047449736.1:c.238+10567TG[24] XM_047449736.1:c.238+10567TG[25] XM_047449736.1:c.238+10567TG[26] XM_047449736.1:c.238+10567TG[27] XM_047449736.1:c.238+10567TG[28] XM_047449736.1:c.238+10567TG[29] XM_047449736.1:c.238+10567TG[30] XM_047449736.1:c.238+10567TG[31] XM_047449736.1:c.238+10567TG[32] XM_047449736.1:c.238+10567TG[33] XM_047449736.1:c.238+10567TG[36]
ELF2 transcript variant X5 XM_047449737.1:c.238+10602= XM_047449737.1:c.238+10567TG[8] XM_047449737.1:c.238+10567TG[9] XM_047449737.1:c.238+10567TG[10] XM_047449737.1:c.238+10567TG[11] XM_047449737.1:c.238+10567TG[12] XM_047449737.1:c.238+10567TG[13] XM_047449737.1:c.238+10567TG[14] XM_047449737.1:c.238+10567TG[15] XM_047449737.1:c.238+10567TG[16] XM_047449737.1:c.238+10567TG[17] XM_047449737.1:c.238+10567TG[19] XM_047449737.1:c.238+10567TG[20] XM_047449737.1:c.238+10567TG[21] XM_047449737.1:c.238+10567TG[22] XM_047449737.1:c.238+10567TG[23] XM_047449737.1:c.238+10567TG[24] XM_047449737.1:c.238+10567TG[25] XM_047449737.1:c.238+10567TG[26] XM_047449737.1:c.238+10567TG[27] XM_047449737.1:c.238+10567TG[28] XM_047449737.1:c.238+10567TG[29] XM_047449737.1:c.238+10567TG[30] XM_047449737.1:c.238+10567TG[31] XM_047449737.1:c.238+10567TG[32] XM_047449737.1:c.238+10567TG[33] XM_047449737.1:c.238+10567TG[36]
ELF2 transcript variant X6 XM_047449738.1:c.238+10602= XM_047449738.1:c.238+10567TG[8] XM_047449738.1:c.238+10567TG[9] XM_047449738.1:c.238+10567TG[10] XM_047449738.1:c.238+10567TG[11] XM_047449738.1:c.238+10567TG[12] XM_047449738.1:c.238+10567TG[13] XM_047449738.1:c.238+10567TG[14] XM_047449738.1:c.238+10567TG[15] XM_047449738.1:c.238+10567TG[16] XM_047449738.1:c.238+10567TG[17] XM_047449738.1:c.238+10567TG[19] XM_047449738.1:c.238+10567TG[20] XM_047449738.1:c.238+10567TG[21] XM_047449738.1:c.238+10567TG[22] XM_047449738.1:c.238+10567TG[23] XM_047449738.1:c.238+10567TG[24] XM_047449738.1:c.238+10567TG[25] XM_047449738.1:c.238+10567TG[26] XM_047449738.1:c.238+10567TG[27] XM_047449738.1:c.238+10567TG[28] XM_047449738.1:c.238+10567TG[29] XM_047449738.1:c.238+10567TG[30] XM_047449738.1:c.238+10567TG[31] XM_047449738.1:c.238+10567TG[32] XM_047449738.1:c.238+10567TG[33] XM_047449738.1:c.238+10567TG[36]
ELF2 transcript variant X7 XM_047449739.1:c.238+10602= XM_047449739.1:c.238+10567TG[8] XM_047449739.1:c.238+10567TG[9] XM_047449739.1:c.238+10567TG[10] XM_047449739.1:c.238+10567TG[11] XM_047449739.1:c.238+10567TG[12] XM_047449739.1:c.238+10567TG[13] XM_047449739.1:c.238+10567TG[14] XM_047449739.1:c.238+10567TG[15] XM_047449739.1:c.238+10567TG[16] XM_047449739.1:c.238+10567TG[17] XM_047449739.1:c.238+10567TG[19] XM_047449739.1:c.238+10567TG[20] XM_047449739.1:c.238+10567TG[21] XM_047449739.1:c.238+10567TG[22] XM_047449739.1:c.238+10567TG[23] XM_047449739.1:c.238+10567TG[24] XM_047449739.1:c.238+10567TG[25] XM_047449739.1:c.238+10567TG[26] XM_047449739.1:c.238+10567TG[27] XM_047449739.1:c.238+10567TG[28] XM_047449739.1:c.238+10567TG[29] XM_047449739.1:c.238+10567TG[30] XM_047449739.1:c.238+10567TG[31] XM_047449739.1:c.238+10567TG[32] XM_047449739.1:c.238+10567TG[33] XM_047449739.1:c.238+10567TG[36]
ELF2 transcript variant X8 XM_047449740.1:c.238+10602= XM_047449740.1:c.238+10567TG[8] XM_047449740.1:c.238+10567TG[9] XM_047449740.1:c.238+10567TG[10] XM_047449740.1:c.238+10567TG[11] XM_047449740.1:c.238+10567TG[12] XM_047449740.1:c.238+10567TG[13] XM_047449740.1:c.238+10567TG[14] XM_047449740.1:c.238+10567TG[15] XM_047449740.1:c.238+10567TG[16] XM_047449740.1:c.238+10567TG[17] XM_047449740.1:c.238+10567TG[19] XM_047449740.1:c.238+10567TG[20] XM_047449740.1:c.238+10567TG[21] XM_047449740.1:c.238+10567TG[22] XM_047449740.1:c.238+10567TG[23] XM_047449740.1:c.238+10567TG[24] XM_047449740.1:c.238+10567TG[25] XM_047449740.1:c.238+10567TG[26] XM_047449740.1:c.238+10567TG[27] XM_047449740.1:c.238+10567TG[28] XM_047449740.1:c.238+10567TG[29] XM_047449740.1:c.238+10567TG[30] XM_047449740.1:c.238+10567TG[31] XM_047449740.1:c.238+10567TG[32] XM_047449740.1:c.238+10567TG[33] XM_047449740.1:c.238+10567TG[36]
ELF2 transcript variant X9 XM_047449741.1:c.238+10602= XM_047449741.1:c.238+10567TG[8] XM_047449741.1:c.238+10567TG[9] XM_047449741.1:c.238+10567TG[10] XM_047449741.1:c.238+10567TG[11] XM_047449741.1:c.238+10567TG[12] XM_047449741.1:c.238+10567TG[13] XM_047449741.1:c.238+10567TG[14] XM_047449741.1:c.238+10567TG[15] XM_047449741.1:c.238+10567TG[16] XM_047449741.1:c.238+10567TG[17] XM_047449741.1:c.238+10567TG[19] XM_047449741.1:c.238+10567TG[20] XM_047449741.1:c.238+10567TG[21] XM_047449741.1:c.238+10567TG[22] XM_047449741.1:c.238+10567TG[23] XM_047449741.1:c.238+10567TG[24] XM_047449741.1:c.238+10567TG[25] XM_047449741.1:c.238+10567TG[26] XM_047449741.1:c.238+10567TG[27] XM_047449741.1:c.238+10567TG[28] XM_047449741.1:c.238+10567TG[29] XM_047449741.1:c.238+10567TG[30] XM_047449741.1:c.238+10567TG[31] XM_047449741.1:c.238+10567TG[32] XM_047449741.1:c.238+10567TG[33] XM_047449741.1:c.238+10567TG[36]
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

32 SubSNP, 28 Frequency submissions
No Submitter Submission ID Date (Build)
1 SWEGEN ss2995665281 Nov 08, 2017 (151)
2 MCHAISSO ss3064126010 Nov 08, 2017 (151)
3 MCHAISSO ss3065978481 Nov 08, 2017 (151)
4 ACPOP ss3731668888 Jul 13, 2019 (153)
5 KHV_HUMAN_GENOMES ss3805654088 Jul 13, 2019 (153)
6 EVA ss3828844585 Apr 26, 2020 (154)
7 GNOMAD ss4121578395 Apr 26, 2021 (155)
8 GNOMAD ss4121578396 Apr 26, 2021 (155)
9 GNOMAD ss4121578397 Apr 26, 2021 (155)
10 GNOMAD ss4121578398 Apr 26, 2021 (155)
11 GNOMAD ss4121578399 Apr 26, 2021 (155)
12 GNOMAD ss4121578400 Apr 26, 2021 (155)
13 GNOMAD ss4121578401 Apr 26, 2021 (155)
14 GNOMAD ss4121578402 Apr 26, 2021 (155)
15 GNOMAD ss4121578403 Apr 26, 2021 (155)
16 GNOMAD ss4121578404 Apr 26, 2021 (155)
17 GNOMAD ss4121578405 Apr 26, 2021 (155)
18 GNOMAD ss4121578406 Apr 26, 2021 (155)
19 GNOMAD ss4121578407 Apr 26, 2021 (155)
20 GNOMAD ss4121578408 Apr 26, 2021 (155)
21 GNOMAD ss4121578409 Apr 26, 2021 (155)
22 GNOMAD ss4121578481 Apr 26, 2021 (155)
23 GNOMAD ss4121578482 Apr 26, 2021 (155)
24 GNOMAD ss4121578483 Apr 26, 2021 (155)
25 GNOMAD ss4121578484 Apr 26, 2021 (155)
26 GNOMAD ss4121578485 Apr 26, 2021 (155)
27 GNOMAD ss4121578486 Apr 26, 2021 (155)
28 GNOMAD ss4121578487 Apr 26, 2021 (155)
29 GNOMAD ss4121578488 Apr 26, 2021 (155)
30 GNOMAD ss4121578489 Apr 26, 2021 (155)
31 GNOMAD ss4121578490 Apr 26, 2021 (155)
32 TOMMO_GENOMICS ss5703378972 Oct 17, 2022 (156)
33 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 166919606 (NC_000004.12:139114561::CA 5972/99716)
Row 166919607 (NC_000004.12:139114561::CACA 1171/99736)
Row 166919608 (NC_000004.12:139114561::CACACA 1241/99730)...

- Apr 26, 2021 (155)
34 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 166919606 (NC_000004.12:139114561::CA 5972/99716)
Row 166919607 (NC_000004.12:139114561::CACA 1171/99736)
Row 166919608 (NC_000004.12:139114561::CACACA 1241/99730)...

- Apr 26, 2021 (155)
35 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 166919606 (NC_000004.12:139114561::CA 5972/99716)
Row 166919607 (NC_000004.12:139114561::CACA 1171/99736)
Row 166919608 (NC_000004.12:139114561::CACACA 1241/99730)...

- Apr 26, 2021 (155)
36 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 166919606 (NC_000004.12:139114561::CA 5972/99716)
Row 166919607 (NC_000004.12:139114561::CACA 1171/99736)
Row 166919608 (NC_000004.12:139114561::CACACA 1241/99730)...

- Apr 26, 2021 (155)
37 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 166919606 (NC_000004.12:139114561::CA 5972/99716)
Row 166919607 (NC_000004.12:139114561::CACA 1171/99736)
Row 166919608 (NC_000004.12:139114561::CACACA 1241/99730)...

- Apr 26, 2021 (155)
38 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 166919606 (NC_000004.12:139114561::CA 5972/99716)
Row 166919607 (NC_000004.12:139114561::CACA 1171/99736)
Row 166919608 (NC_000004.12:139114561::CACACA 1241/99730)...

- Apr 26, 2021 (155)
39 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 166919606 (NC_000004.12:139114561::CA 5972/99716)
Row 166919607 (NC_000004.12:139114561::CACA 1171/99736)
Row 166919608 (NC_000004.12:139114561::CACACA 1241/99730)...

- Apr 26, 2021 (155)
40 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 166919606 (NC_000004.12:139114561::CA 5972/99716)
Row 166919607 (NC_000004.12:139114561::CACA 1171/99736)
Row 166919608 (NC_000004.12:139114561::CACACA 1241/99730)...

- Apr 26, 2021 (155)
41 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 166919606 (NC_000004.12:139114561::CA 5972/99716)
Row 166919607 (NC_000004.12:139114561::CACA 1171/99736)
Row 166919608 (NC_000004.12:139114561::CACACA 1241/99730)...

- Apr 26, 2021 (155)
42 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 166919606 (NC_000004.12:139114561::CA 5972/99716)
Row 166919607 (NC_000004.12:139114561::CACA 1171/99736)
Row 166919608 (NC_000004.12:139114561::CACACA 1241/99730)...

- Apr 26, 2021 (155)
43 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 166919606 (NC_000004.12:139114561::CA 5972/99716)
Row 166919607 (NC_000004.12:139114561::CACA 1171/99736)
Row 166919608 (NC_000004.12:139114561::CACACA 1241/99730)...

- Apr 26, 2021 (155)
44 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 166919606 (NC_000004.12:139114561::CA 5972/99716)
Row 166919607 (NC_000004.12:139114561::CACA 1171/99736)
Row 166919608 (NC_000004.12:139114561::CACACA 1241/99730)...

- Apr 26, 2021 (155)
45 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 166919606 (NC_000004.12:139114561::CA 5972/99716)
Row 166919607 (NC_000004.12:139114561::CACA 1171/99736)
Row 166919608 (NC_000004.12:139114561::CACACA 1241/99730)...

- Apr 26, 2021 (155)
46 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 166919606 (NC_000004.12:139114561::CA 5972/99716)
Row 166919607 (NC_000004.12:139114561::CACA 1171/99736)
Row 166919608 (NC_000004.12:139114561::CACACA 1241/99730)...

- Apr 26, 2021 (155)
47 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 166919606 (NC_000004.12:139114561::CA 5972/99716)
Row 166919607 (NC_000004.12:139114561::CACA 1171/99736)
Row 166919608 (NC_000004.12:139114561::CACACA 1241/99730)...

- Apr 26, 2021 (155)
48 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 166919606 (NC_000004.12:139114561::CA 5972/99716)
Row 166919607 (NC_000004.12:139114561::CACA 1171/99736)
Row 166919608 (NC_000004.12:139114561::CACACA 1241/99730)...

- Apr 26, 2021 (155)
49 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 166919606 (NC_000004.12:139114561::CA 5972/99716)
Row 166919607 (NC_000004.12:139114561::CACA 1171/99736)
Row 166919608 (NC_000004.12:139114561::CACACA 1241/99730)...

- Apr 26, 2021 (155)
50 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 166919606 (NC_000004.12:139114561::CA 5972/99716)
Row 166919607 (NC_000004.12:139114561::CACA 1171/99736)
Row 166919608 (NC_000004.12:139114561::CACACA 1241/99730)...

- Apr 26, 2021 (155)
51 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 166919606 (NC_000004.12:139114561::CA 5972/99716)
Row 166919607 (NC_000004.12:139114561::CACA 1171/99736)
Row 166919608 (NC_000004.12:139114561::CACACA 1241/99730)...

- Apr 26, 2021 (155)
52 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 166919606 (NC_000004.12:139114561::CA 5972/99716)
Row 166919607 (NC_000004.12:139114561::CACA 1171/99736)
Row 166919608 (NC_000004.12:139114561::CACACA 1241/99730)...

- Apr 26, 2021 (155)
53 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 166919606 (NC_000004.12:139114561::CA 5972/99716)
Row 166919607 (NC_000004.12:139114561::CACA 1171/99736)
Row 166919608 (NC_000004.12:139114561::CACACA 1241/99730)...

- Apr 26, 2021 (155)
54 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 166919606 (NC_000004.12:139114561::CA 5972/99716)
Row 166919607 (NC_000004.12:139114561::CACA 1171/99736)
Row 166919608 (NC_000004.12:139114561::CACACA 1241/99730)...

- Apr 26, 2021 (155)
55 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 166919606 (NC_000004.12:139114561::CA 5972/99716)
Row 166919607 (NC_000004.12:139114561::CACA 1171/99736)
Row 166919608 (NC_000004.12:139114561::CACACA 1241/99730)...

- Apr 26, 2021 (155)
56 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 166919606 (NC_000004.12:139114561::CA 5972/99716)
Row 166919607 (NC_000004.12:139114561::CACA 1171/99736)
Row 166919608 (NC_000004.12:139114561::CACACA 1241/99730)...

- Apr 26, 2021 (155)
57 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 166919606 (NC_000004.12:139114561::CA 5972/99716)
Row 166919607 (NC_000004.12:139114561::CACA 1171/99736)
Row 166919608 (NC_000004.12:139114561::CACACA 1241/99730)...

- Apr 26, 2021 (155)
58 Northern Sweden NC_000004.11 - 140035716 Jul 13, 2019 (153)
59 14KJPN NC_000004.12 - 139114562 Oct 17, 2022 (156)
60 ALFA NC_000004.12 - 139114562 Apr 26, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4121578490 NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACA:

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACA

(self)
6975557118 NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACA

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACA

(self)
ss4121578489 NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACA:

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACA

(self)
6975557118 NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACA

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACA

(self)
ss4121578488 NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACA:

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACA

(self)
6975557118 NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACA

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACA

(self)
ss4121578487 NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACA:

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA

(self)
6975557118 NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA

(self)
ss4121578486 NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACA:

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA

(self)
6975557118 NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA

(self)
ss4121578485 NC_000004.12:139114561:CACACACACA: NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA

(self)
6975557118 NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA

(self)
ss4121578484 NC_000004.12:139114561:CACACACA: NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA

(self)
6975557118 NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA

(self)
ss4121578483 NC_000004.12:139114561:CACACA: NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA

(self)
6975557118 NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA

(self)
ss4121578482 NC_000004.12:139114561:CACA: NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA

(self)
6975557118 NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA

(self)
ss3805654088, ss4121578481 NC_000004.12:139114561:CA: NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA

(self)
6975557118 NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA

(self)
ss3828844585 NC_000004.11:140035715::CA NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA

(self)
37216076, ss3064126010, ss4121578395, ss5703378972 NC_000004.12:139114561::CA NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA

(self)
6975557118 NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA

(self)
ss4121578396 NC_000004.12:139114561::CACA NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA

(self)
6975557118 NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA

(self)
ss4121578397 NC_000004.12:139114561::CACACA NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA

(self)
6975557118 NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA

(self)
4953753, ss2995665281, ss3731668888 NC_000004.11:140035715::CACACACA NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA

(self)
ss4121578398 NC_000004.12:139114561::CACACACA NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA

(self)
6975557118 NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA

(self)
ss4121578399 NC_000004.12:139114561::CACACACACA NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA

(self)
6975557118 NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss3065978481, ss4121578400 NC_000004.12:139114561::CACACACACA…

NC_000004.12:139114561::CACACACACACA

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA

(self)
6975557118 NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss4121578401 NC_000004.12:139114561::CACACACACA…

NC_000004.12:139114561::CACACACACACACA

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
6975557118 NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss4121578402 NC_000004.12:139114561::CACACACACA…

NC_000004.12:139114561::CACACACACACACACA

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
6975557118 NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss4121578403 NC_000004.12:139114561::CACACACACA…

NC_000004.12:139114561::CACACACACACACACACA

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
6975557118 NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss4121578404 NC_000004.12:139114561::CACACACACA…

NC_000004.12:139114561::CACACACACACACACACACA

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
6975557118 NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss4121578405 NC_000004.12:139114561::CACACACACA…

NC_000004.12:139114561::CACACACACACACACACACACA

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
6975557118 NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
6975557118 NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss4121578406 NC_000004.12:139114561::CACACACACA…

NC_000004.12:139114561::CACACACACACACACACACACACACA

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss4121578407 NC_000004.12:139114561::CACACACACA…

NC_000004.12:139114561::CACACACACACACACACACACACACACA

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss4121578408 NC_000004.12:139114561::CACACACACA…

NC_000004.12:139114561::CACACACACACACACACACACACACACACA

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss4121578409 NC_000004.12:139114561::CACACACACA…

NC_000004.12:139114561::CACACACACACACACACACACACACACACACACACA

NC_000004.12:139114561:CACACACACAC…

NC_000004.12:139114561:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs776035411

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d