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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.

rs55700532

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:155778142-155778163 (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(A)14 / del(A)13 / del(A)12 / d…

del(A)14 / del(A)13 / del(A)12 / del(A)11 / del(A)10 / del(A)9 / del(A)8 / del(A)7 / del(A)6 / del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)4 / dup(A)5 / dup(A)6 / dup(A)7 / dup(A)8 / dup(A)9 / dup(A)10 / dup(A)11 / dup(A)12 / dup(A)13 / dup(A)20 / ins(A)23 / ins(A)24 / ins(A)26 / ins(A)28 / ins(A)33

Variation Type
Indel Insertion and Deletion
Frequency
del(A)14=0.0000 (0/3292, ALFA)
del(A)13=0.0000 (0/3292, ALFA)
del(A)12=0.0000 (0/3292, ALFA) (+ 17 more)
del(A)11=0.0000 (0/3292, ALFA)
del(A)10=0.0000 (0/3292, ALFA)
del(A)9=0.0000 (0/3292, ALFA)
del(A)8=0.0000 (0/3292, ALFA)
del(A)7=0.0000 (0/3292, ALFA)
del(A)6=0.0000 (0/3292, ALFA)
del(A)5=0.0000 (0/3292, ALFA)
del(A)4=0.0000 (0/3292, ALFA)
delAAA=0.0000 (0/3292, ALFA)
delAA=0.0000 (0/3292, ALFA)
delA=0.0000 (0/3292, ALFA)
dupA=0.0000 (0/3292, ALFA)
dupAA=0.0000 (0/3292, ALFA)
dupAAA=0.0000 (0/3292, ALFA)
dup(A)4=0.0000 (0/3292, ALFA)
dup(A)5=0.0000 (0/3292, ALFA)
dup(A)6=0.0000 (0/3292, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
C3orf33 : 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 3292 AAAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 1794 AAAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 1032 AAAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Others Sub 54 AAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 978 AAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 50 AAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 38 AAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 12 AAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 34 AAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 200 AAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 38 AAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 144 AAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=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
Allele Frequency Aggregator Total Global 3292 (A)22=1.0000 del(A)14=0.0000, del(A)13=0.0000, del(A)12=0.0000, del(A)11=0.0000, del(A)10=0.0000, del(A)9=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000, dup(A)5=0.0000, dup(A)6=0.0000
Allele Frequency Aggregator European Sub 1794 (A)22=1.0000 del(A)14=0.0000, del(A)13=0.0000, del(A)12=0.0000, del(A)11=0.0000, del(A)10=0.0000, del(A)9=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000, dup(A)5=0.0000, dup(A)6=0.0000
Allele Frequency Aggregator African Sub 1032 (A)22=1.0000 del(A)14=0.0000, del(A)13=0.0000, del(A)12=0.0000, del(A)11=0.0000, del(A)10=0.0000, del(A)9=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000, dup(A)5=0.0000, dup(A)6=0.0000
Allele Frequency Aggregator Latin American 2 Sub 200 (A)22=1.000 del(A)14=0.000, del(A)13=0.000, del(A)12=0.000, del(A)11=0.000, del(A)10=0.000, del(A)9=0.000, del(A)8=0.000, del(A)7=0.000, del(A)6=0.000, del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000, dup(A)5=0.000, dup(A)6=0.000
Allele Frequency Aggregator Other Sub 144 (A)22=1.000 del(A)14=0.000, del(A)13=0.000, del(A)12=0.000, del(A)11=0.000, del(A)10=0.000, del(A)9=0.000, del(A)8=0.000, del(A)7=0.000, del(A)6=0.000, del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000, dup(A)5=0.000, dup(A)6=0.000
Allele Frequency Aggregator Asian Sub 50 (A)22=1.00 del(A)14=0.00, del(A)13=0.00, del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)5=0.00, dup(A)6=0.00
Allele Frequency Aggregator South Asian Sub 38 (A)22=1.00 del(A)14=0.00, del(A)13=0.00, del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)5=0.00, dup(A)6=0.00
Allele Frequency Aggregator Latin American 1 Sub 34 (A)22=1.00 del(A)14=0.00, del(A)13=0.00, del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)5=0.00, dup(A)6=0.00
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 3 NC_000003.12:g.155778150_155778163del
GRCh38.p14 chr 3 NC_000003.12:g.155778151_155778163del
GRCh38.p14 chr 3 NC_000003.12:g.155778152_155778163del
GRCh38.p14 chr 3 NC_000003.12:g.155778153_155778163del
GRCh38.p14 chr 3 NC_000003.12:g.155778154_155778163del
GRCh38.p14 chr 3 NC_000003.12:g.155778155_155778163del
GRCh38.p14 chr 3 NC_000003.12:g.155778156_155778163del
GRCh38.p14 chr 3 NC_000003.12:g.155778157_155778163del
GRCh38.p14 chr 3 NC_000003.12:g.155778158_155778163del
GRCh38.p14 chr 3 NC_000003.12:g.155778159_155778163del
GRCh38.p14 chr 3 NC_000003.12:g.155778160_155778163del
GRCh38.p14 chr 3 NC_000003.12:g.155778161_155778163del
GRCh38.p14 chr 3 NC_000003.12:g.155778162_155778163del
GRCh38.p14 chr 3 NC_000003.12:g.155778163del
GRCh38.p14 chr 3 NC_000003.12:g.155778163dup
GRCh38.p14 chr 3 NC_000003.12:g.155778162_155778163dup
GRCh38.p14 chr 3 NC_000003.12:g.155778161_155778163dup
GRCh38.p14 chr 3 NC_000003.12:g.155778160_155778163dup
GRCh38.p14 chr 3 NC_000003.12:g.155778159_155778163dup
GRCh38.p14 chr 3 NC_000003.12:g.155778158_155778163dup
GRCh38.p14 chr 3 NC_000003.12:g.155778157_155778163dup
GRCh38.p14 chr 3 NC_000003.12:g.155778156_155778163dup
GRCh38.p14 chr 3 NC_000003.12:g.155778155_155778163dup
GRCh38.p14 chr 3 NC_000003.12:g.155778154_155778163dup
GRCh38.p14 chr 3 NC_000003.12:g.155778153_155778163dup
GRCh38.p14 chr 3 NC_000003.12:g.155778152_155778163dup
GRCh38.p14 chr 3 NC_000003.12:g.155778151_155778163dup
GRCh38.p14 chr 3 NC_000003.12:g.155778144_155778163dup
GRCh38.p14 chr 3 NC_000003.12:g.155778163_155778164insAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 3 NC_000003.12:g.155778163_155778164insAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 3 NC_000003.12:g.155778163_155778164insAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 3 NC_000003.12:g.155778163_155778164insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 3 NC_000003.12:g.155778163_155778164insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 3 NC_000003.11:g.155495939_155495952del
GRCh37.p13 chr 3 NC_000003.11:g.155495940_155495952del
GRCh37.p13 chr 3 NC_000003.11:g.155495941_155495952del
GRCh37.p13 chr 3 NC_000003.11:g.155495942_155495952del
GRCh37.p13 chr 3 NC_000003.11:g.155495943_155495952del
GRCh37.p13 chr 3 NC_000003.11:g.155495944_155495952del
GRCh37.p13 chr 3 NC_000003.11:g.155495945_155495952del
GRCh37.p13 chr 3 NC_000003.11:g.155495946_155495952del
GRCh37.p13 chr 3 NC_000003.11:g.155495947_155495952del
GRCh37.p13 chr 3 NC_000003.11:g.155495948_155495952del
GRCh37.p13 chr 3 NC_000003.11:g.155495949_155495952del
GRCh37.p13 chr 3 NC_000003.11:g.155495950_155495952del
GRCh37.p13 chr 3 NC_000003.11:g.155495951_155495952del
GRCh37.p13 chr 3 NC_000003.11:g.155495952del
GRCh37.p13 chr 3 NC_000003.11:g.155495952dup
GRCh37.p13 chr 3 NC_000003.11:g.155495951_155495952dup
GRCh37.p13 chr 3 NC_000003.11:g.155495950_155495952dup
GRCh37.p13 chr 3 NC_000003.11:g.155495949_155495952dup
GRCh37.p13 chr 3 NC_000003.11:g.155495948_155495952dup
GRCh37.p13 chr 3 NC_000003.11:g.155495947_155495952dup
GRCh37.p13 chr 3 NC_000003.11:g.155495946_155495952dup
GRCh37.p13 chr 3 NC_000003.11:g.155495945_155495952dup
GRCh37.p13 chr 3 NC_000003.11:g.155495944_155495952dup
GRCh37.p13 chr 3 NC_000003.11:g.155495943_155495952dup
GRCh37.p13 chr 3 NC_000003.11:g.155495942_155495952dup
GRCh37.p13 chr 3 NC_000003.11:g.155495941_155495952dup
GRCh37.p13 chr 3 NC_000003.11:g.155495940_155495952dup
GRCh37.p13 chr 3 NC_000003.11:g.155495933_155495952dup
GRCh37.p13 chr 3 NC_000003.11:g.155495952_155495953insAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 3 NC_000003.11:g.155495952_155495953insAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 3 NC_000003.11:g.155495952_155495953insAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 3 NC_000003.11:g.155495952_155495953insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 3 NC_000003.11:g.155495952_155495953insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene: C3orf33, chromosome 3 open reading frame 33 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
C3orf33 transcript variant 1 NM_001308229.2:c.175-2307…

NM_001308229.2:c.175-2307_175-2294del

N/A Intron Variant
C3orf33 transcript variant 2 NM_173657.3:c.46-2307_46-…

NM_173657.3:c.46-2307_46-2294del

N/A Intron Variant
C3orf33 transcript variant X1 XM_011512710.3:c.115-2307…

XM_011512710.3:c.115-2307_115-2294del

N/A Intron 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 (A)22= del(A)14 del(A)13 del(A)12 del(A)11 del(A)10 del(A)9 del(A)8 del(A)7 del(A)6 del(A)5 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)4 dup(A)5 dup(A)6 dup(A)7 dup(A)8 dup(A)9 dup(A)10 dup(A)11 dup(A)12 dup(A)13 dup(A)20 ins(A)23 ins(A)24 ins(A)26 ins(A)28 ins(A)33
GRCh38.p14 chr 3 NC_000003.12:g.155778142_155778163= NC_000003.12:g.155778150_155778163del NC_000003.12:g.155778151_155778163del NC_000003.12:g.155778152_155778163del NC_000003.12:g.155778153_155778163del NC_000003.12:g.155778154_155778163del NC_000003.12:g.155778155_155778163del NC_000003.12:g.155778156_155778163del NC_000003.12:g.155778157_155778163del NC_000003.12:g.155778158_155778163del NC_000003.12:g.155778159_155778163del NC_000003.12:g.155778160_155778163del NC_000003.12:g.155778161_155778163del NC_000003.12:g.155778162_155778163del NC_000003.12:g.155778163del NC_000003.12:g.155778163dup NC_000003.12:g.155778162_155778163dup NC_000003.12:g.155778161_155778163dup NC_000003.12:g.155778160_155778163dup NC_000003.12:g.155778159_155778163dup NC_000003.12:g.155778158_155778163dup NC_000003.12:g.155778157_155778163dup NC_000003.12:g.155778156_155778163dup NC_000003.12:g.155778155_155778163dup NC_000003.12:g.155778154_155778163dup NC_000003.12:g.155778153_155778163dup NC_000003.12:g.155778152_155778163dup NC_000003.12:g.155778151_155778163dup NC_000003.12:g.155778144_155778163dup NC_000003.12:g.155778163_155778164insAAAAAAAAAAAAAAAAAAAAAAA NC_000003.12:g.155778163_155778164insAAAAAAAAAAAAAAAAAAAAAAAA NC_000003.12:g.155778163_155778164insAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000003.12:g.155778163_155778164insAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000003.12:g.155778163_155778164insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 3 NC_000003.11:g.155495931_155495952= NC_000003.11:g.155495939_155495952del NC_000003.11:g.155495940_155495952del NC_000003.11:g.155495941_155495952del NC_000003.11:g.155495942_155495952del NC_000003.11:g.155495943_155495952del NC_000003.11:g.155495944_155495952del NC_000003.11:g.155495945_155495952del NC_000003.11:g.155495946_155495952del NC_000003.11:g.155495947_155495952del NC_000003.11:g.155495948_155495952del NC_000003.11:g.155495949_155495952del NC_000003.11:g.155495950_155495952del NC_000003.11:g.155495951_155495952del NC_000003.11:g.155495952del NC_000003.11:g.155495952dup NC_000003.11:g.155495951_155495952dup NC_000003.11:g.155495950_155495952dup NC_000003.11:g.155495949_155495952dup NC_000003.11:g.155495948_155495952dup NC_000003.11:g.155495947_155495952dup NC_000003.11:g.155495946_155495952dup NC_000003.11:g.155495945_155495952dup NC_000003.11:g.155495944_155495952dup NC_000003.11:g.155495943_155495952dup NC_000003.11:g.155495942_155495952dup NC_000003.11:g.155495941_155495952dup NC_000003.11:g.155495940_155495952dup NC_000003.11:g.155495933_155495952dup NC_000003.11:g.155495952_155495953insAAAAAAAAAAAAAAAAAAAAAAA NC_000003.11:g.155495952_155495953insAAAAAAAAAAAAAAAAAAAAAAAA NC_000003.11:g.155495952_155495953insAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000003.11:g.155495952_155495953insAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000003.11:g.155495952_155495953insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
C3orf33 transcript variant 1 NM_001308229.2:c.175-2294= NM_001308229.2:c.175-2307_175-2294del NM_001308229.2:c.175-2306_175-2294del NM_001308229.2:c.175-2305_175-2294del NM_001308229.2:c.175-2304_175-2294del NM_001308229.2:c.175-2303_175-2294del NM_001308229.2:c.175-2302_175-2294del NM_001308229.2:c.175-2301_175-2294del NM_001308229.2:c.175-2300_175-2294del NM_001308229.2:c.175-2299_175-2294del NM_001308229.2:c.175-2298_175-2294del NM_001308229.2:c.175-2297_175-2294del NM_001308229.2:c.175-2296_175-2294del NM_001308229.2:c.175-2295_175-2294del NM_001308229.2:c.175-2294del NM_001308229.2:c.175-2294dup NM_001308229.2:c.175-2295_175-2294dup NM_001308229.2:c.175-2296_175-2294dup NM_001308229.2:c.175-2297_175-2294dup NM_001308229.2:c.175-2298_175-2294dup NM_001308229.2:c.175-2299_175-2294dup NM_001308229.2:c.175-2300_175-2294dup NM_001308229.2:c.175-2301_175-2294dup NM_001308229.2:c.175-2302_175-2294dup NM_001308229.2:c.175-2303_175-2294dup NM_001308229.2:c.175-2304_175-2294dup NM_001308229.2:c.175-2305_175-2294dup NM_001308229.2:c.175-2306_175-2294dup NM_001308229.2:c.175-2313_175-2294dup NM_001308229.2:c.175-2294_175-2293insTTTTTTTTTTTTTTTTTTTTTTT NM_001308229.2:c.175-2294_175-2293insTTTTTTTTTTTTTTTTTTTTTTTT NM_001308229.2:c.175-2294_175-2293insTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001308229.2:c.175-2294_175-2293insTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001308229.2:c.175-2294_175-2293insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
C3orf33 transcript NM_173657.1:c.46-2294= NM_173657.1:c.46-2307_46-2294del NM_173657.1:c.46-2306_46-2294del NM_173657.1:c.46-2305_46-2294del NM_173657.1:c.46-2304_46-2294del NM_173657.1:c.46-2303_46-2294del NM_173657.1:c.46-2302_46-2294del NM_173657.1:c.46-2301_46-2294del NM_173657.1:c.46-2300_46-2294del NM_173657.1:c.46-2299_46-2294del NM_173657.1:c.46-2298_46-2294del NM_173657.1:c.46-2297_46-2294del NM_173657.1:c.46-2296_46-2294del NM_173657.1:c.46-2295_46-2294del NM_173657.1:c.46-2294del NM_173657.1:c.46-2294dup NM_173657.1:c.46-2295_46-2294dup NM_173657.1:c.46-2296_46-2294dup NM_173657.1:c.46-2297_46-2294dup NM_173657.1:c.46-2298_46-2294dup NM_173657.1:c.46-2299_46-2294dup NM_173657.1:c.46-2300_46-2294dup NM_173657.1:c.46-2301_46-2294dup NM_173657.1:c.46-2302_46-2294dup NM_173657.1:c.46-2303_46-2294dup NM_173657.1:c.46-2304_46-2294dup NM_173657.1:c.46-2305_46-2294dup NM_173657.1:c.46-2306_46-2294dup NM_173657.1:c.46-2313_46-2294dup NM_173657.1:c.46-2294_46-2293insTTTTTTTTTTTTTTTTTTTTTTT NM_173657.1:c.46-2294_46-2293insTTTTTTTTTTTTTTTTTTTTTTTT NM_173657.1:c.46-2294_46-2293insTTTTTTTTTTTTTTTTTTTTTTTTTT NM_173657.1:c.46-2294_46-2293insTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_173657.1:c.46-2294_46-2293insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
C3orf33 transcript variant 2 NM_173657.3:c.46-2294= NM_173657.3:c.46-2307_46-2294del NM_173657.3:c.46-2306_46-2294del NM_173657.3:c.46-2305_46-2294del NM_173657.3:c.46-2304_46-2294del NM_173657.3:c.46-2303_46-2294del NM_173657.3:c.46-2302_46-2294del NM_173657.3:c.46-2301_46-2294del NM_173657.3:c.46-2300_46-2294del NM_173657.3:c.46-2299_46-2294del NM_173657.3:c.46-2298_46-2294del NM_173657.3:c.46-2297_46-2294del NM_173657.3:c.46-2296_46-2294del NM_173657.3:c.46-2295_46-2294del NM_173657.3:c.46-2294del NM_173657.3:c.46-2294dup NM_173657.3:c.46-2295_46-2294dup NM_173657.3:c.46-2296_46-2294dup NM_173657.3:c.46-2297_46-2294dup NM_173657.3:c.46-2298_46-2294dup NM_173657.3:c.46-2299_46-2294dup NM_173657.3:c.46-2300_46-2294dup NM_173657.3:c.46-2301_46-2294dup NM_173657.3:c.46-2302_46-2294dup NM_173657.3:c.46-2303_46-2294dup NM_173657.3:c.46-2304_46-2294dup NM_173657.3:c.46-2305_46-2294dup NM_173657.3:c.46-2306_46-2294dup NM_173657.3:c.46-2313_46-2294dup NM_173657.3:c.46-2294_46-2293insTTTTTTTTTTTTTTTTTTTTTTT NM_173657.3:c.46-2294_46-2293insTTTTTTTTTTTTTTTTTTTTTTTT NM_173657.3:c.46-2294_46-2293insTTTTTTTTTTTTTTTTTTTTTTTTTT NM_173657.3:c.46-2294_46-2293insTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_173657.3:c.46-2294_46-2293insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
C3orf33 transcript variant X1 XM_005247378.1:c.175-2294= XM_005247378.1:c.175-2307_175-2294del XM_005247378.1:c.175-2306_175-2294del XM_005247378.1:c.175-2305_175-2294del XM_005247378.1:c.175-2304_175-2294del XM_005247378.1:c.175-2303_175-2294del XM_005247378.1:c.175-2302_175-2294del XM_005247378.1:c.175-2301_175-2294del XM_005247378.1:c.175-2300_175-2294del XM_005247378.1:c.175-2299_175-2294del XM_005247378.1:c.175-2298_175-2294del XM_005247378.1:c.175-2297_175-2294del XM_005247378.1:c.175-2296_175-2294del XM_005247378.1:c.175-2295_175-2294del XM_005247378.1:c.175-2294del XM_005247378.1:c.175-2294dup XM_005247378.1:c.175-2295_175-2294dup XM_005247378.1:c.175-2296_175-2294dup XM_005247378.1:c.175-2297_175-2294dup XM_005247378.1:c.175-2298_175-2294dup XM_005247378.1:c.175-2299_175-2294dup XM_005247378.1:c.175-2300_175-2294dup XM_005247378.1:c.175-2301_175-2294dup XM_005247378.1:c.175-2302_175-2294dup XM_005247378.1:c.175-2303_175-2294dup XM_005247378.1:c.175-2304_175-2294dup XM_005247378.1:c.175-2305_175-2294dup XM_005247378.1:c.175-2306_175-2294dup XM_005247378.1:c.175-2313_175-2294dup XM_005247378.1:c.175-2294_175-2293insTTTTTTTTTTTTTTTTTTTTTTT XM_005247378.1:c.175-2294_175-2293insTTTTTTTTTTTTTTTTTTTTTTTT XM_005247378.1:c.175-2294_175-2293insTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005247378.1:c.175-2294_175-2293insTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005247378.1:c.175-2294_175-2293insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
C3orf33 transcript variant X2 XM_005247379.1:c.46-2294= XM_005247379.1:c.46-2307_46-2294del XM_005247379.1:c.46-2306_46-2294del XM_005247379.1:c.46-2305_46-2294del XM_005247379.1:c.46-2304_46-2294del XM_005247379.1:c.46-2303_46-2294del XM_005247379.1:c.46-2302_46-2294del XM_005247379.1:c.46-2301_46-2294del XM_005247379.1:c.46-2300_46-2294del XM_005247379.1:c.46-2299_46-2294del XM_005247379.1:c.46-2298_46-2294del XM_005247379.1:c.46-2297_46-2294del XM_005247379.1:c.46-2296_46-2294del XM_005247379.1:c.46-2295_46-2294del XM_005247379.1:c.46-2294del XM_005247379.1:c.46-2294dup XM_005247379.1:c.46-2295_46-2294dup XM_005247379.1:c.46-2296_46-2294dup XM_005247379.1:c.46-2297_46-2294dup XM_005247379.1:c.46-2298_46-2294dup XM_005247379.1:c.46-2299_46-2294dup XM_005247379.1:c.46-2300_46-2294dup XM_005247379.1:c.46-2301_46-2294dup XM_005247379.1:c.46-2302_46-2294dup XM_005247379.1:c.46-2303_46-2294dup XM_005247379.1:c.46-2304_46-2294dup XM_005247379.1:c.46-2305_46-2294dup XM_005247379.1:c.46-2306_46-2294dup XM_005247379.1:c.46-2313_46-2294dup XM_005247379.1:c.46-2294_46-2293insTTTTTTTTTTTTTTTTTTTTTTT XM_005247379.1:c.46-2294_46-2293insTTTTTTTTTTTTTTTTTTTTTTTT XM_005247379.1:c.46-2294_46-2293insTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005247379.1:c.46-2294_46-2293insTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005247379.1:c.46-2294_46-2293insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
C3orf33 transcript variant X3 XM_005247380.1:c.46-2294= XM_005247380.1:c.46-2307_46-2294del XM_005247380.1:c.46-2306_46-2294del XM_005247380.1:c.46-2305_46-2294del XM_005247380.1:c.46-2304_46-2294del XM_005247380.1:c.46-2303_46-2294del XM_005247380.1:c.46-2302_46-2294del XM_005247380.1:c.46-2301_46-2294del XM_005247380.1:c.46-2300_46-2294del XM_005247380.1:c.46-2299_46-2294del XM_005247380.1:c.46-2298_46-2294del XM_005247380.1:c.46-2297_46-2294del XM_005247380.1:c.46-2296_46-2294del XM_005247380.1:c.46-2295_46-2294del XM_005247380.1:c.46-2294del XM_005247380.1:c.46-2294dup XM_005247380.1:c.46-2295_46-2294dup XM_005247380.1:c.46-2296_46-2294dup XM_005247380.1:c.46-2297_46-2294dup XM_005247380.1:c.46-2298_46-2294dup XM_005247380.1:c.46-2299_46-2294dup XM_005247380.1:c.46-2300_46-2294dup XM_005247380.1:c.46-2301_46-2294dup XM_005247380.1:c.46-2302_46-2294dup XM_005247380.1:c.46-2303_46-2294dup XM_005247380.1:c.46-2304_46-2294dup XM_005247380.1:c.46-2305_46-2294dup XM_005247380.1:c.46-2306_46-2294dup XM_005247380.1:c.46-2313_46-2294dup XM_005247380.1:c.46-2294_46-2293insTTTTTTTTTTTTTTTTTTTTTTT XM_005247380.1:c.46-2294_46-2293insTTTTTTTTTTTTTTTTTTTTTTTT XM_005247380.1:c.46-2294_46-2293insTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005247380.1:c.46-2294_46-2293insTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005247380.1:c.46-2294_46-2293insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
C3orf33 transcript variant X1 XM_011512710.3:c.115-2294= XM_011512710.3:c.115-2307_115-2294del XM_011512710.3:c.115-2306_115-2294del XM_011512710.3:c.115-2305_115-2294del XM_011512710.3:c.115-2304_115-2294del XM_011512710.3:c.115-2303_115-2294del XM_011512710.3:c.115-2302_115-2294del XM_011512710.3:c.115-2301_115-2294del XM_011512710.3:c.115-2300_115-2294del XM_011512710.3:c.115-2299_115-2294del XM_011512710.3:c.115-2298_115-2294del XM_011512710.3:c.115-2297_115-2294del XM_011512710.3:c.115-2296_115-2294del XM_011512710.3:c.115-2295_115-2294del XM_011512710.3:c.115-2294del XM_011512710.3:c.115-2294dup XM_011512710.3:c.115-2295_115-2294dup XM_011512710.3:c.115-2296_115-2294dup XM_011512710.3:c.115-2297_115-2294dup XM_011512710.3:c.115-2298_115-2294dup XM_011512710.3:c.115-2299_115-2294dup XM_011512710.3:c.115-2300_115-2294dup XM_011512710.3:c.115-2301_115-2294dup XM_011512710.3:c.115-2302_115-2294dup XM_011512710.3:c.115-2303_115-2294dup XM_011512710.3:c.115-2304_115-2294dup XM_011512710.3:c.115-2305_115-2294dup XM_011512710.3:c.115-2306_115-2294dup XM_011512710.3:c.115-2313_115-2294dup XM_011512710.3:c.115-2294_115-2293insTTTTTTTTTTTTTTTTTTTTTTT XM_011512710.3:c.115-2294_115-2293insTTTTTTTTTTTTTTTTTTTTTTTT XM_011512710.3:c.115-2294_115-2293insTTTTTTTTTTTTTTTTTTTTTTTTTT XM_011512710.3:c.115-2294_115-2293insTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_011512710.3:c.115-2294_115-2293insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
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#.

74 SubSNP, 43 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss77941765 Dec 06, 2007 (129)
2 HGSV ss82069481 Dec 14, 2007 (130)
3 HUMANGENOME_JCVI ss99174252 Feb 04, 2009 (130)
4 PJP ss295134258 Oct 12, 2018 (152)
5 SSMP ss663369773 Apr 01, 2015 (144)
6 DDI ss1536379051 Apr 01, 2015 (144)
7 SWEGEN ss2993469278 Jan 10, 2018 (151)
8 SWEGEN ss2993469279 Jan 10, 2018 (151)
9 SWEGEN ss2993469280 Jan 10, 2018 (151)
10 SWEGEN ss2993469281 Jan 10, 2018 (151)
11 EVA_DECODE ss3710618116 Jul 13, 2019 (153)
12 EVA_DECODE ss3710618117 Jul 13, 2019 (153)
13 EVA_DECODE ss3710618118 Jul 13, 2019 (153)
14 EVA_DECODE ss3710618119 Jul 13, 2019 (153)
15 PACBIO ss3789996115 Jul 13, 2019 (153)
16 PACBIO ss3789996116 Jul 13, 2019 (153)
17 PACBIO ss3794870778 Jul 13, 2019 (153)
18 PACBIO ss3794870779 Jul 13, 2019 (153)
19 EVA ss3828159734 Apr 25, 2020 (154)
20 GNOMAD ss4083771226 Apr 26, 2021 (155)
21 GNOMAD ss4083771227 Apr 26, 2021 (155)
22 GNOMAD ss4083771228 Apr 26, 2021 (155)
23 GNOMAD ss4083771229 Apr 26, 2021 (155)
24 GNOMAD ss4083771230 Apr 26, 2021 (155)
25 GNOMAD ss4083771231 Apr 26, 2021 (155)
26 GNOMAD ss4083771232 Apr 26, 2021 (155)
27 GNOMAD ss4083771233 Apr 26, 2021 (155)
28 GNOMAD ss4083771234 Apr 26, 2021 (155)
29 GNOMAD ss4083771235 Apr 26, 2021 (155)
30 GNOMAD ss4083771236 Apr 26, 2021 (155)
31 GNOMAD ss4083771237 Apr 26, 2021 (155)
32 GNOMAD ss4083771238 Apr 26, 2021 (155)
33 GNOMAD ss4083771239 Apr 26, 2021 (155)
34 GNOMAD ss4083771240 Apr 26, 2021 (155)
35 GNOMAD ss4083771241 Apr 26, 2021 (155)
36 GNOMAD ss4083771242 Apr 26, 2021 (155)
37 GNOMAD ss4083771243 Apr 26, 2021 (155)
38 GNOMAD ss4083771244 Apr 26, 2021 (155)
39 GNOMAD ss4083771245 Apr 26, 2021 (155)
40 GNOMAD ss4083771246 Apr 26, 2021 (155)
41 GNOMAD ss4083771247 Apr 26, 2021 (155)
42 GNOMAD ss4083771248 Apr 26, 2021 (155)
43 GNOMAD ss4083771249 Apr 26, 2021 (155)
44 GNOMAD ss4083771250 Apr 26, 2021 (155)
45 GNOMAD ss4083771251 Apr 26, 2021 (155)
46 GNOMAD ss4083771252 Apr 26, 2021 (155)
47 GNOMAD ss4083771253 Apr 26, 2021 (155)
48 GNOMAD ss4083771254 Apr 26, 2021 (155)
49 GNOMAD ss4083771255 Apr 26, 2021 (155)
50 GNOMAD ss4083771256 Apr 26, 2021 (155)
51 TOMMO_GENOMICS ss5162349579 Apr 26, 2021 (155)
52 TOMMO_GENOMICS ss5162349580 Apr 26, 2021 (155)
53 TOMMO_GENOMICS ss5162349581 Apr 26, 2021 (155)
54 TOMMO_GENOMICS ss5162349582 Apr 26, 2021 (155)
55 TOMMO_GENOMICS ss5162349583 Apr 26, 2021 (155)
56 1000G_HIGH_COVERAGE ss5256620145 Oct 12, 2022 (156)
57 1000G_HIGH_COVERAGE ss5256620146 Oct 12, 2022 (156)
58 1000G_HIGH_COVERAGE ss5256620147 Oct 12, 2022 (156)
59 1000G_HIGH_COVERAGE ss5256620148 Oct 12, 2022 (156)
60 1000G_HIGH_COVERAGE ss5256620149 Oct 12, 2022 (156)
61 HUGCELL_USP ss5455701596 Oct 12, 2022 (156)
62 HUGCELL_USP ss5455701597 Oct 12, 2022 (156)
63 HUGCELL_USP ss5455701598 Oct 12, 2022 (156)
64 HUGCELL_USP ss5455701599 Oct 12, 2022 (156)
65 HUGCELL_USP ss5455701600 Oct 12, 2022 (156)
66 TOMMO_GENOMICS ss5695448842 Oct 12, 2022 (156)
67 TOMMO_GENOMICS ss5695448843 Oct 12, 2022 (156)
68 TOMMO_GENOMICS ss5695448845 Oct 12, 2022 (156)
69 TOMMO_GENOMICS ss5695448846 Oct 12, 2022 (156)
70 TOMMO_GENOMICS ss5695448847 Oct 12, 2022 (156)
71 EVA ss5826708373 Oct 12, 2022 (156)
72 EVA ss5826708374 Oct 12, 2022 (156)
73 EVA ss5826708375 Oct 12, 2022 (156)
74 EVA ss5871684503 Oct 12, 2022 (156)
75 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 128766222 (NC_000003.12:155778141::A 4634/71142)
Row 128766223 (NC_000003.12:155778141::AA 253/71308)
Row 128766224 (NC_000003.12:155778141::AAA 28471/71202)...

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

Submission ignored due to conflicting rows:
Row 128766222 (NC_000003.12:155778141::A 4634/71142)
Row 128766223 (NC_000003.12:155778141::AA 253/71308)
Row 128766224 (NC_000003.12:155778141::AAA 28471/71202)...

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

Submission ignored due to conflicting rows:
Row 128766222 (NC_000003.12:155778141::A 4634/71142)
Row 128766223 (NC_000003.12:155778141::AA 253/71308)
Row 128766224 (NC_000003.12:155778141::AAA 28471/71202)...

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

Submission ignored due to conflicting rows:
Row 128766222 (NC_000003.12:155778141::A 4634/71142)
Row 128766223 (NC_000003.12:155778141::AA 253/71308)
Row 128766224 (NC_000003.12:155778141::AAA 28471/71202)...

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

Submission ignored due to conflicting rows:
Row 128766222 (NC_000003.12:155778141::A 4634/71142)
Row 128766223 (NC_000003.12:155778141::AA 253/71308)
Row 128766224 (NC_000003.12:155778141::AAA 28471/71202)...

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

Submission ignored due to conflicting rows:
Row 128766222 (NC_000003.12:155778141::A 4634/71142)
Row 128766223 (NC_000003.12:155778141::AA 253/71308)
Row 128766224 (NC_000003.12:155778141::AAA 28471/71202)...

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

Submission ignored due to conflicting rows:
Row 128766222 (NC_000003.12:155778141::A 4634/71142)
Row 128766223 (NC_000003.12:155778141::AA 253/71308)
Row 128766224 (NC_000003.12:155778141::AAA 28471/71202)...

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

Submission ignored due to conflicting rows:
Row 128766222 (NC_000003.12:155778141::A 4634/71142)
Row 128766223 (NC_000003.12:155778141::AA 253/71308)
Row 128766224 (NC_000003.12:155778141::AAA 28471/71202)...

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

Submission ignored due to conflicting rows:
Row 128766222 (NC_000003.12:155778141::A 4634/71142)
Row 128766223 (NC_000003.12:155778141::AA 253/71308)
Row 128766224 (NC_000003.12:155778141::AAA 28471/71202)...

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

Submission ignored due to conflicting rows:
Row 128766222 (NC_000003.12:155778141::A 4634/71142)
Row 128766223 (NC_000003.12:155778141::AA 253/71308)
Row 128766224 (NC_000003.12:155778141::AAA 28471/71202)...

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

Submission ignored due to conflicting rows:
Row 128766222 (NC_000003.12:155778141::A 4634/71142)
Row 128766223 (NC_000003.12:155778141::AA 253/71308)
Row 128766224 (NC_000003.12:155778141::AAA 28471/71202)...

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

Submission ignored due to conflicting rows:
Row 128766222 (NC_000003.12:155778141::A 4634/71142)
Row 128766223 (NC_000003.12:155778141::AA 253/71308)
Row 128766224 (NC_000003.12:155778141::AAA 28471/71202)...

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

Submission ignored due to conflicting rows:
Row 128766222 (NC_000003.12:155778141::A 4634/71142)
Row 128766223 (NC_000003.12:155778141::AA 253/71308)
Row 128766224 (NC_000003.12:155778141::AAA 28471/71202)...

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

Submission ignored due to conflicting rows:
Row 128766222 (NC_000003.12:155778141::A 4634/71142)
Row 128766223 (NC_000003.12:155778141::AA 253/71308)
Row 128766224 (NC_000003.12:155778141::AAA 28471/71202)...

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

Submission ignored due to conflicting rows:
Row 128766222 (NC_000003.12:155778141::A 4634/71142)
Row 128766223 (NC_000003.12:155778141::AA 253/71308)
Row 128766224 (NC_000003.12:155778141::AAA 28471/71202)...

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

Submission ignored due to conflicting rows:
Row 128766222 (NC_000003.12:155778141::A 4634/71142)
Row 128766223 (NC_000003.12:155778141::AA 253/71308)
Row 128766224 (NC_000003.12:155778141::AAA 28471/71202)...

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

Submission ignored due to conflicting rows:
Row 128766222 (NC_000003.12:155778141::A 4634/71142)
Row 128766223 (NC_000003.12:155778141::AA 253/71308)
Row 128766224 (NC_000003.12:155778141::AAA 28471/71202)...

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

Submission ignored due to conflicting rows:
Row 128766222 (NC_000003.12:155778141::A 4634/71142)
Row 128766223 (NC_000003.12:155778141::AA 253/71308)
Row 128766224 (NC_000003.12:155778141::AAA 28471/71202)...

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

Submission ignored due to conflicting rows:
Row 128766222 (NC_000003.12:155778141::A 4634/71142)
Row 128766223 (NC_000003.12:155778141::AA 253/71308)
Row 128766224 (NC_000003.12:155778141::AAA 28471/71202)...

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

Submission ignored due to conflicting rows:
Row 128766222 (NC_000003.12:155778141::A 4634/71142)
Row 128766223 (NC_000003.12:155778141::AA 253/71308)
Row 128766224 (NC_000003.12:155778141::AAA 28471/71202)...

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

Submission ignored due to conflicting rows:
Row 128766222 (NC_000003.12:155778141::A 4634/71142)
Row 128766223 (NC_000003.12:155778141::AA 253/71308)
Row 128766224 (NC_000003.12:155778141::AAA 28471/71202)...

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

Submission ignored due to conflicting rows:
Row 128766222 (NC_000003.12:155778141::A 4634/71142)
Row 128766223 (NC_000003.12:155778141::AA 253/71308)
Row 128766224 (NC_000003.12:155778141::AAA 28471/71202)...

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

Submission ignored due to conflicting rows:
Row 128766222 (NC_000003.12:155778141::A 4634/71142)
Row 128766223 (NC_000003.12:155778141::AA 253/71308)
Row 128766224 (NC_000003.12:155778141::AAA 28471/71202)...

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

Submission ignored due to conflicting rows:
Row 128766222 (NC_000003.12:155778141::A 4634/71142)
Row 128766223 (NC_000003.12:155778141::AA 253/71308)
Row 128766224 (NC_000003.12:155778141::AAA 28471/71202)...

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

Submission ignored due to conflicting rows:
Row 128766222 (NC_000003.12:155778141::A 4634/71142)
Row 128766223 (NC_000003.12:155778141::AA 253/71308)
Row 128766224 (NC_000003.12:155778141::AAA 28471/71202)...

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

Submission ignored due to conflicting rows:
Row 128766222 (NC_000003.12:155778141::A 4634/71142)
Row 128766223 (NC_000003.12:155778141::AA 253/71308)
Row 128766224 (NC_000003.12:155778141::AAA 28471/71202)...

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

Submission ignored due to conflicting rows:
Row 128766222 (NC_000003.12:155778141::A 4634/71142)
Row 128766223 (NC_000003.12:155778141::AA 253/71308)
Row 128766224 (NC_000003.12:155778141::AAA 28471/71202)...

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

Submission ignored due to conflicting rows:
Row 128766222 (NC_000003.12:155778141::A 4634/71142)
Row 128766223 (NC_000003.12:155778141::AA 253/71308)
Row 128766224 (NC_000003.12:155778141::AAA 28471/71202)...

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

Submission ignored due to conflicting rows:
Row 128766222 (NC_000003.12:155778141::A 4634/71142)
Row 128766223 (NC_000003.12:155778141::AA 253/71308)
Row 128766224 (NC_000003.12:155778141::AAA 28471/71202)...

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

Submission ignored due to conflicting rows:
Row 128766222 (NC_000003.12:155778141::A 4634/71142)
Row 128766223 (NC_000003.12:155778141::AA 253/71308)
Row 128766224 (NC_000003.12:155778141::AAA 28471/71202)...

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

Submission ignored due to conflicting rows:
Row 128766222 (NC_000003.12:155778141::A 4634/71142)
Row 128766223 (NC_000003.12:155778141::AA 253/71308)
Row 128766224 (NC_000003.12:155778141::AAA 28471/71202)...

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

Submission ignored due to conflicting rows:
Row 128766222 (NC_000003.12:155778141::A 4634/71142)
Row 128766223 (NC_000003.12:155778141::AA 253/71308)
Row 128766224 (NC_000003.12:155778141::AAA 28471/71202)...

- Apr 26, 2021 (155)
107 8.3KJPN

Submission ignored due to conflicting rows:
Row 20318886 (NC_000003.11:155495930::AAA 5366/15700)
Row 20318887 (NC_000003.11:155495930::AA 67/15700)
Row 20318888 (NC_000003.11:155495930::AAAA 588/15700)...

- Apr 26, 2021 (155)
108 8.3KJPN

Submission ignored due to conflicting rows:
Row 20318886 (NC_000003.11:155495930::AAA 5366/15700)
Row 20318887 (NC_000003.11:155495930::AA 67/15700)
Row 20318888 (NC_000003.11:155495930::AAAA 588/15700)...

- Apr 26, 2021 (155)
109 8.3KJPN

Submission ignored due to conflicting rows:
Row 20318886 (NC_000003.11:155495930::AAA 5366/15700)
Row 20318887 (NC_000003.11:155495930::AA 67/15700)
Row 20318888 (NC_000003.11:155495930::AAAA 588/15700)...

- Apr 26, 2021 (155)
110 8.3KJPN

Submission ignored due to conflicting rows:
Row 20318886 (NC_000003.11:155495930::AAA 5366/15700)
Row 20318887 (NC_000003.11:155495930::AA 67/15700)
Row 20318888 (NC_000003.11:155495930::AAAA 588/15700)...

- Apr 26, 2021 (155)
111 8.3KJPN

Submission ignored due to conflicting rows:
Row 20318886 (NC_000003.11:155495930::AAA 5366/15700)
Row 20318887 (NC_000003.11:155495930::AA 67/15700)
Row 20318888 (NC_000003.11:155495930::AAAA 588/15700)...

- Apr 26, 2021 (155)
112 14KJPN

Submission ignored due to conflicting rows:
Row 29285946 (NC_000003.12:155778141::AAA 10311/27644)
Row 29285947 (NC_000003.12:155778141::AA 87/27644)
Row 29285949 (NC_000003.12:155778141::AAAA 1155/27644)...

- Oct 12, 2022 (156)
113 14KJPN

Submission ignored due to conflicting rows:
Row 29285946 (NC_000003.12:155778141::AAA 10311/27644)
Row 29285947 (NC_000003.12:155778141::AA 87/27644)
Row 29285949 (NC_000003.12:155778141::AAAA 1155/27644)...

- Oct 12, 2022 (156)
114 14KJPN

Submission ignored due to conflicting rows:
Row 29285946 (NC_000003.12:155778141::AAA 10311/27644)
Row 29285947 (NC_000003.12:155778141::AA 87/27644)
Row 29285949 (NC_000003.12:155778141::AAAA 1155/27644)...

- Oct 12, 2022 (156)
115 14KJPN

Submission ignored due to conflicting rows:
Row 29285946 (NC_000003.12:155778141::AAA 10311/27644)
Row 29285947 (NC_000003.12:155778141::AA 87/27644)
Row 29285949 (NC_000003.12:155778141::AAAA 1155/27644)...

- Oct 12, 2022 (156)
116 14KJPN

Submission ignored due to conflicting rows:
Row 29285946 (NC_000003.12:155778141::AAA 10311/27644)
Row 29285947 (NC_000003.12:155778141::AA 87/27644)
Row 29285949 (NC_000003.12:155778141::AAAA 1155/27644)...

- Oct 12, 2022 (156)
117 ALFA NC_000003.12 - 155778142 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).

Associated ID History Updated (Build)
rs56996950 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
10692472717 NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA

NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA

(self)
ss4083771256 NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAA:

NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
10692472717 NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
ss4083771255 NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAA:

NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
10692472717 NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
ss4083771254 NC_000003.12:155778141:AAAAAAAAAAA: NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
10692472717 NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss4083771253 NC_000003.12:155778141:AAAAAAAAAA: NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
10692472717 NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4083771252 NC_000003.12:155778141:AAAAAAAAA: NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
10692472717 NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss4083771251 NC_000003.12:155778141:AAAAAAAA: NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
10692472717 NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss4083771250 NC_000003.12:155778141:AAAAAAA: NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
10692472717 NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4083771249, ss5256620147 NC_000003.12:155778141:AAAAAA: NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
10692472717 NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4083771248 NC_000003.12:155778141:AAAAA: NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
10692472717 NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4083771247 NC_000003.12:155778141:AAAA: NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
10692472717 NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4083771246 NC_000003.12:155778141:AAA: NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
10692472717 NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss4083771245, ss5256620149, ss5455701600 NC_000003.12:155778141:AA: NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
10692472717 NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss5162349583 NC_000003.11:155495930:A: NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss5695448847 NC_000003.12:155778141:A: NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
10692472717 NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss663369773, ss2993469281, ss5162349582 NC_000003.11:155495930::A NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3710618119, ss4083771226, ss5256620145, ss5455701599, ss5695448846 NC_000003.12:155778141::A NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
10692472717 NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5162349580, ss5826708374 NC_000003.11:155495930::AA NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3710618118, ss4083771227, ss5455701596, ss5695448843 NC_000003.12:155778141::AA NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
10692472717 NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss295134258 NC_000003.10:156978644::AAA NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss1536379051, ss2993469278, ss3789996115, ss3794870778, ss3828159734, ss5162349579, ss5826708373 NC_000003.11:155495930::AAA NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3710618117, ss4083771228, ss5256620146, ss5455701597, ss5695448842, ss5871684503 NC_000003.12:155778141::AAA NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
10692472717 NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss77941765, ss82069481, ss99174252 NT_005612.16:61991098::AAA NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss2993469280, ss3789996116, ss3794870779, ss5162349581, ss5826708375 NC_000003.11:155495930::AAAA NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3710618116, ss4083771229, ss5256620148, ss5455701598, ss5695448845 NC_000003.12:155778141::AAAA NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
10692472717 NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss2993469279 NC_000003.11:155495930::AAAAA NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4083771230 NC_000003.12:155778141::AAAAA NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
10692472717 NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4083771231 NC_000003.12:155778141::AAAAAA NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
10692472717 NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4083771232 NC_000003.12:155778141::AAAAAAA NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4083771233 NC_000003.12:155778141::AAAAAAAA NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4083771234 NC_000003.12:155778141::AAAAAAAAA NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4083771235 NC_000003.12:155778141::AAAAAAAAAA NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4083771236 NC_000003.12:155778141::AAAAAAAAAAA NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4083771237 NC_000003.12:155778141::AAAAAAAAAA…

NC_000003.12:155778141::AAAAAAAAAAAA

NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4083771238 NC_000003.12:155778141::AAAAAAAAAA…

NC_000003.12:155778141::AAAAAAAAAAAAA

NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4083771239 NC_000003.12:155778141::AAAAAAAAAA…

NC_000003.12:155778141::AAAAAAAAAAAAAAAAAAAA

NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4083771240 NC_000003.12:155778141::AAAAAAAAAA…

NC_000003.12:155778141::AAAAAAAAAAAAAAAAAAAAAAA

NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4083771241 NC_000003.12:155778141::AAAAAAAAAA…

NC_000003.12:155778141::AAAAAAAAAAAAAAAAAAAAAAAA

NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4083771242 NC_000003.12:155778141::AAAAAAAAAA…

NC_000003.12:155778141::AAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4083771243 NC_000003.12:155778141::AAAAAAAAAA…

NC_000003.12:155778141::AAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4083771244 NC_000003.12:155778141::AAAAAAAAAA…

NC_000003.12:155778141::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3409989893 NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAA:

NC_000003.12:155778141:AAAAAAAAAAA…

NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA

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 rs55700532

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