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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.

rs75539434

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:139574736-139574753 (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)11 / del(A)10 / del(A)9 / de…

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)14 / dup(A)15 / dup(A)16 / dup(A)17 / dup(A)18

Variation Type
Indel Insertion and Deletion
Frequency
del(A)11=0.000004 (1/264690, TOPMED)
del(A)11=0.0000 (0/9446, ALFA)
del(A)10=0.0000 (0/9446, ALFA) (+ 17 more)
del(A)9=0.0000 (0/9446, ALFA)
del(A)8=0.0000 (0/9446, ALFA)
del(A)7=0.0000 (0/9446, ALFA)
del(A)5=0.0000 (0/9446, ALFA)
del(A)4=0.0000 (0/9446, ALFA)
delAAA=0.0000 (0/9446, ALFA)
delAA=0.0000 (0/9446, ALFA)
delA=0.0000 (0/9446, ALFA)
dupA=0.0000 (0/9446, ALFA)
dupAA=0.0000 (0/9446, ALFA)
dup(A)4=0.0000 (0/9446, ALFA)
dup(A)5=0.0000 (0/9446, ALFA)
dup(A)6=0.0000 (0/9446, ALFA)
dup(A)7=0.0000 (0/9446, ALFA)
dup(A)8=0.0000 (0/9446, ALFA)
dup(A)9=0.0000 (0/9446, ALFA)
del(A)9=0.0125 (48/3854, ALSPAC)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
UBE2D2 : 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 9446 AAAAAAAAAAAAAAAAAA=1.0000 AAAAAAA=0.0000, AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 6328 AAAAAAAAAAAAAAAAAA=1.0000 AAAAAAA=0.0000, AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 1942 AAAAAAAAAAAAAAAAAA=1.0000 AAAAAAA=0.0000, AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Others Sub 70 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 1872 AAAAAAAAAAAAAAAAAA=1.0000 AAAAAAA=0.0000, AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
Asian Sub 84 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 68 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 16 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 112 AAAAAAAAAAAAAAAAAA=1.000 AAAAAAA=0.000, AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 554 AAAAAAAAAAAAAAAAAA=1.000 AAAAAAA=0.000, AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 58 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 368 AAAAAAAAAAAAAAAAAA=1.000 AAAAAAA=0.000, AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=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
TopMed Global Study-wide 264690 (A)18=0.999996 del(A)11=0.000004
Allele Frequency Aggregator Total Global 9446 (A)18=1.0000 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)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dup(A)4=0.0000, dup(A)5=0.0000, dup(A)6=0.0000, dup(A)7=0.0000, dup(A)8=0.0000, dup(A)9=0.0000
Allele Frequency Aggregator European Sub 6328 (A)18=1.0000 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)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dup(A)4=0.0000, dup(A)5=0.0000, dup(A)6=0.0000, dup(A)7=0.0000, dup(A)8=0.0000, dup(A)9=0.0000
Allele Frequency Aggregator African Sub 1942 (A)18=1.0000 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)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dup(A)4=0.0000, dup(A)5=0.0000, dup(A)6=0.0000, dup(A)7=0.0000, dup(A)8=0.0000, dup(A)9=0.0000
Allele Frequency Aggregator Latin American 2 Sub 554 (A)18=1.000 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)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dup(A)4=0.000, dup(A)5=0.000, dup(A)6=0.000, dup(A)7=0.000, dup(A)8=0.000, dup(A)9=0.000
Allele Frequency Aggregator Other Sub 368 (A)18=1.000 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)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dup(A)4=0.000, dup(A)5=0.000, dup(A)6=0.000, dup(A)7=0.000, dup(A)8=0.000, dup(A)9=0.000
Allele Frequency Aggregator Latin American 1 Sub 112 (A)18=1.000 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)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dup(A)4=0.000, dup(A)5=0.000, dup(A)6=0.000, dup(A)7=0.000, dup(A)8=0.000, dup(A)9=0.000
Allele Frequency Aggregator Asian Sub 84 (A)18=1.00 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)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dup(A)4=0.00, dup(A)5=0.00, dup(A)6=0.00, dup(A)7=0.00, dup(A)8=0.00, dup(A)9=0.00
Allele Frequency Aggregator South Asian Sub 58 (A)18=1.00 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)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dup(A)4=0.00, dup(A)5=0.00, dup(A)6=0.00, dup(A)7=0.00, dup(A)8=0.00, dup(A)9=0.00
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 (A)18=0.9875 del(A)9=0.0125
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 5 NC_000005.10:g.139574743_139574753del
GRCh38.p14 chr 5 NC_000005.10:g.139574744_139574753del
GRCh38.p14 chr 5 NC_000005.10:g.139574745_139574753del
GRCh38.p14 chr 5 NC_000005.10:g.139574746_139574753del
GRCh38.p14 chr 5 NC_000005.10:g.139574747_139574753del
GRCh38.p14 chr 5 NC_000005.10:g.139574748_139574753del
GRCh38.p14 chr 5 NC_000005.10:g.139574749_139574753del
GRCh38.p14 chr 5 NC_000005.10:g.139574750_139574753del
GRCh38.p14 chr 5 NC_000005.10:g.139574751_139574753del
GRCh38.p14 chr 5 NC_000005.10:g.139574752_139574753del
GRCh38.p14 chr 5 NC_000005.10:g.139574753del
GRCh38.p14 chr 5 NC_000005.10:g.139574753dup
GRCh38.p14 chr 5 NC_000005.10:g.139574752_139574753dup
GRCh38.p14 chr 5 NC_000005.10:g.139574751_139574753dup
GRCh38.p14 chr 5 NC_000005.10:g.139574750_139574753dup
GRCh38.p14 chr 5 NC_000005.10:g.139574749_139574753dup
GRCh38.p14 chr 5 NC_000005.10:g.139574748_139574753dup
GRCh38.p14 chr 5 NC_000005.10:g.139574747_139574753dup
GRCh38.p14 chr 5 NC_000005.10:g.139574746_139574753dup
GRCh38.p14 chr 5 NC_000005.10:g.139574745_139574753dup
GRCh38.p14 chr 5 NC_000005.10:g.139574744_139574753dup
GRCh38.p14 chr 5 NC_000005.10:g.139574743_139574753dup
GRCh38.p14 chr 5 NC_000005.10:g.139574742_139574753dup
GRCh38.p14 chr 5 NC_000005.10:g.139574741_139574753dup
GRCh38.p14 chr 5 NC_000005.10:g.139574740_139574753dup
GRCh38.p14 chr 5 NC_000005.10:g.139574739_139574753dup
GRCh38.p14 chr 5 NC_000005.10:g.139574738_139574753dup
GRCh38.p14 chr 5 NC_000005.10:g.139574737_139574753dup
GRCh38.p14 chr 5 NC_000005.10:g.139574736_139574753dup
GRCh37.p13 chr 5 NC_000005.9:g.138954328_138954338del
GRCh37.p13 chr 5 NC_000005.9:g.138954329_138954338del
GRCh37.p13 chr 5 NC_000005.9:g.138954330_138954338del
GRCh37.p13 chr 5 NC_000005.9:g.138954331_138954338del
GRCh37.p13 chr 5 NC_000005.9:g.138954332_138954338del
GRCh37.p13 chr 5 NC_000005.9:g.138954333_138954338del
GRCh37.p13 chr 5 NC_000005.9:g.138954334_138954338del
GRCh37.p13 chr 5 NC_000005.9:g.138954335_138954338del
GRCh37.p13 chr 5 NC_000005.9:g.138954336_138954338del
GRCh37.p13 chr 5 NC_000005.9:g.138954337_138954338del
GRCh37.p13 chr 5 NC_000005.9:g.138954338del
GRCh37.p13 chr 5 NC_000005.9:g.138954338dup
GRCh37.p13 chr 5 NC_000005.9:g.138954337_138954338dup
GRCh37.p13 chr 5 NC_000005.9:g.138954336_138954338dup
GRCh37.p13 chr 5 NC_000005.9:g.138954335_138954338dup
GRCh37.p13 chr 5 NC_000005.9:g.138954334_138954338dup
GRCh37.p13 chr 5 NC_000005.9:g.138954333_138954338dup
GRCh37.p13 chr 5 NC_000005.9:g.138954332_138954338dup
GRCh37.p13 chr 5 NC_000005.9:g.138954331_138954338dup
GRCh37.p13 chr 5 NC_000005.9:g.138954330_138954338dup
GRCh37.p13 chr 5 NC_000005.9:g.138954329_138954338dup
GRCh37.p13 chr 5 NC_000005.9:g.138954328_138954338dup
GRCh37.p13 chr 5 NC_000005.9:g.138954327_138954338dup
GRCh37.p13 chr 5 NC_000005.9:g.138954326_138954338dup
GRCh37.p13 chr 5 NC_000005.9:g.138954325_138954338dup
GRCh37.p13 chr 5 NC_000005.9:g.138954324_138954338dup
GRCh37.p13 chr 5 NC_000005.9:g.138954323_138954338dup
GRCh37.p13 chr 5 NC_000005.9:g.138954322_138954338dup
GRCh37.p13 chr 5 NC_000005.9:g.138954321_138954338dup
Gene: UBE2D2, ubiquitin conjugating enzyme E2 D2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
UBE2D2 transcript variant 1 NM_003339.3:c.24+12928_24…

NM_003339.3:c.24+12928_24+12938del

N/A Intron Variant
UBE2D2 transcript variant 2 NM_181838.2:c.-64+12336_-…

NM_181838.2:c.-64+12336_-64+12346del

N/A Intron Variant
UBE2D2 transcript variant X2 XM_047417691.1:c.-63-2562…

XM_047417691.1:c.-63-25629_-63-25619del

N/A Intron Variant
UBE2D2 transcript variant X1 XM_047417690.1: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 (A)18= 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)14 dup(A)15 dup(A)16 dup(A)17 dup(A)18
GRCh38.p14 chr 5 NC_000005.10:g.139574736_139574753= NC_000005.10:g.139574743_139574753del NC_000005.10:g.139574744_139574753del NC_000005.10:g.139574745_139574753del NC_000005.10:g.139574746_139574753del NC_000005.10:g.139574747_139574753del NC_000005.10:g.139574748_139574753del NC_000005.10:g.139574749_139574753del NC_000005.10:g.139574750_139574753del NC_000005.10:g.139574751_139574753del NC_000005.10:g.139574752_139574753del NC_000005.10:g.139574753del NC_000005.10:g.139574753dup NC_000005.10:g.139574752_139574753dup NC_000005.10:g.139574751_139574753dup NC_000005.10:g.139574750_139574753dup NC_000005.10:g.139574749_139574753dup NC_000005.10:g.139574748_139574753dup NC_000005.10:g.139574747_139574753dup NC_000005.10:g.139574746_139574753dup NC_000005.10:g.139574745_139574753dup NC_000005.10:g.139574744_139574753dup NC_000005.10:g.139574743_139574753dup NC_000005.10:g.139574742_139574753dup NC_000005.10:g.139574741_139574753dup NC_000005.10:g.139574740_139574753dup NC_000005.10:g.139574739_139574753dup NC_000005.10:g.139574738_139574753dup NC_000005.10:g.139574737_139574753dup NC_000005.10:g.139574736_139574753dup
GRCh37.p13 chr 5 NC_000005.9:g.138954321_138954338= NC_000005.9:g.138954328_138954338del NC_000005.9:g.138954329_138954338del NC_000005.9:g.138954330_138954338del NC_000005.9:g.138954331_138954338del NC_000005.9:g.138954332_138954338del NC_000005.9:g.138954333_138954338del NC_000005.9:g.138954334_138954338del NC_000005.9:g.138954335_138954338del NC_000005.9:g.138954336_138954338del NC_000005.9:g.138954337_138954338del NC_000005.9:g.138954338del NC_000005.9:g.138954338dup NC_000005.9:g.138954337_138954338dup NC_000005.9:g.138954336_138954338dup NC_000005.9:g.138954335_138954338dup NC_000005.9:g.138954334_138954338dup NC_000005.9:g.138954333_138954338dup NC_000005.9:g.138954332_138954338dup NC_000005.9:g.138954331_138954338dup NC_000005.9:g.138954330_138954338dup NC_000005.9:g.138954329_138954338dup NC_000005.9:g.138954328_138954338dup NC_000005.9:g.138954327_138954338dup NC_000005.9:g.138954326_138954338dup NC_000005.9:g.138954325_138954338dup NC_000005.9:g.138954324_138954338dup NC_000005.9:g.138954323_138954338dup NC_000005.9:g.138954322_138954338dup NC_000005.9:g.138954321_138954338dup
UBE2D2 transcript variant 1 NM_003339.2:c.24+12921= NM_003339.2:c.24+12928_24+12938del NM_003339.2:c.24+12929_24+12938del NM_003339.2:c.24+12930_24+12938del NM_003339.2:c.24+12931_24+12938del NM_003339.2:c.24+12932_24+12938del NM_003339.2:c.24+12933_24+12938del NM_003339.2:c.24+12934_24+12938del NM_003339.2:c.24+12935_24+12938del NM_003339.2:c.24+12936_24+12938del NM_003339.2:c.24+12937_24+12938del NM_003339.2:c.24+12938del NM_003339.2:c.24+12938dup NM_003339.2:c.24+12937_24+12938dup NM_003339.2:c.24+12936_24+12938dup NM_003339.2:c.24+12935_24+12938dup NM_003339.2:c.24+12934_24+12938dup NM_003339.2:c.24+12933_24+12938dup NM_003339.2:c.24+12932_24+12938dup NM_003339.2:c.24+12931_24+12938dup NM_003339.2:c.24+12930_24+12938dup NM_003339.2:c.24+12929_24+12938dup NM_003339.2:c.24+12928_24+12938dup NM_003339.2:c.24+12927_24+12938dup NM_003339.2:c.24+12926_24+12938dup NM_003339.2:c.24+12925_24+12938dup NM_003339.2:c.24+12924_24+12938dup NM_003339.2:c.24+12923_24+12938dup NM_003339.2:c.24+12922_24+12938dup NM_003339.2:c.24+12921_24+12938dup
UBE2D2 transcript variant 1 NM_003339.3:c.24+12921= NM_003339.3:c.24+12928_24+12938del NM_003339.3:c.24+12929_24+12938del NM_003339.3:c.24+12930_24+12938del NM_003339.3:c.24+12931_24+12938del NM_003339.3:c.24+12932_24+12938del NM_003339.3:c.24+12933_24+12938del NM_003339.3:c.24+12934_24+12938del NM_003339.3:c.24+12935_24+12938del NM_003339.3:c.24+12936_24+12938del NM_003339.3:c.24+12937_24+12938del NM_003339.3:c.24+12938del NM_003339.3:c.24+12938dup NM_003339.3:c.24+12937_24+12938dup NM_003339.3:c.24+12936_24+12938dup NM_003339.3:c.24+12935_24+12938dup NM_003339.3:c.24+12934_24+12938dup NM_003339.3:c.24+12933_24+12938dup NM_003339.3:c.24+12932_24+12938dup NM_003339.3:c.24+12931_24+12938dup NM_003339.3:c.24+12930_24+12938dup NM_003339.3:c.24+12929_24+12938dup NM_003339.3:c.24+12928_24+12938dup NM_003339.3:c.24+12927_24+12938dup NM_003339.3:c.24+12926_24+12938dup NM_003339.3:c.24+12925_24+12938dup NM_003339.3:c.24+12924_24+12938dup NM_003339.3:c.24+12923_24+12938dup NM_003339.3:c.24+12922_24+12938dup NM_003339.3:c.24+12921_24+12938dup
UBE2D2 transcript variant 2 NM_181838.1:c.-64+12329= NM_181838.1:c.-64+12336_-64+12346del NM_181838.1:c.-64+12337_-64+12346del NM_181838.1:c.-64+12338_-64+12346del NM_181838.1:c.-64+12339_-64+12346del NM_181838.1:c.-64+12340_-64+12346del NM_181838.1:c.-64+12341_-64+12346del NM_181838.1:c.-64+12342_-64+12346del NM_181838.1:c.-64+12343_-64+12346del NM_181838.1:c.-64+12344_-64+12346del NM_181838.1:c.-64+12345_-64+12346del NM_181838.1:c.-64+12346del NM_181838.1:c.-64+12346dup NM_181838.1:c.-64+12345_-64+12346dup NM_181838.1:c.-64+12344_-64+12346dup NM_181838.1:c.-64+12343_-64+12346dup NM_181838.1:c.-64+12342_-64+12346dup NM_181838.1:c.-64+12341_-64+12346dup NM_181838.1:c.-64+12340_-64+12346dup NM_181838.1:c.-64+12339_-64+12346dup NM_181838.1:c.-64+12338_-64+12346dup NM_181838.1:c.-64+12337_-64+12346dup NM_181838.1:c.-64+12336_-64+12346dup NM_181838.1:c.-64+12335_-64+12346dup NM_181838.1:c.-64+12334_-64+12346dup NM_181838.1:c.-64+12333_-64+12346dup NM_181838.1:c.-64+12332_-64+12346dup NM_181838.1:c.-64+12331_-64+12346dup NM_181838.1:c.-64+12330_-64+12346dup NM_181838.1:c.-64+12329_-64+12346dup
UBE2D2 transcript variant 2 NM_181838.2:c.-64+12329= NM_181838.2:c.-64+12336_-64+12346del NM_181838.2:c.-64+12337_-64+12346del NM_181838.2:c.-64+12338_-64+12346del NM_181838.2:c.-64+12339_-64+12346del NM_181838.2:c.-64+12340_-64+12346del NM_181838.2:c.-64+12341_-64+12346del NM_181838.2:c.-64+12342_-64+12346del NM_181838.2:c.-64+12343_-64+12346del NM_181838.2:c.-64+12344_-64+12346del NM_181838.2:c.-64+12345_-64+12346del NM_181838.2:c.-64+12346del NM_181838.2:c.-64+12346dup NM_181838.2:c.-64+12345_-64+12346dup NM_181838.2:c.-64+12344_-64+12346dup NM_181838.2:c.-64+12343_-64+12346dup NM_181838.2:c.-64+12342_-64+12346dup NM_181838.2:c.-64+12341_-64+12346dup NM_181838.2:c.-64+12340_-64+12346dup NM_181838.2:c.-64+12339_-64+12346dup NM_181838.2:c.-64+12338_-64+12346dup NM_181838.2:c.-64+12337_-64+12346dup NM_181838.2:c.-64+12336_-64+12346dup NM_181838.2:c.-64+12335_-64+12346dup NM_181838.2:c.-64+12334_-64+12346dup NM_181838.2:c.-64+12333_-64+12346dup NM_181838.2:c.-64+12332_-64+12346dup NM_181838.2:c.-64+12331_-64+12346dup NM_181838.2:c.-64+12330_-64+12346dup NM_181838.2:c.-64+12329_-64+12346dup
UBE2D2 transcript variant X2 XM_047417691.1:c.-63-25636= XM_047417691.1:c.-63-25629_-63-25619del XM_047417691.1:c.-63-25628_-63-25619del XM_047417691.1:c.-63-25627_-63-25619del XM_047417691.1:c.-63-25626_-63-25619del XM_047417691.1:c.-63-25625_-63-25619del XM_047417691.1:c.-63-25624_-63-25619del XM_047417691.1:c.-63-25623_-63-25619del XM_047417691.1:c.-63-25622_-63-25619del XM_047417691.1:c.-63-25621_-63-25619del XM_047417691.1:c.-63-25620_-63-25619del XM_047417691.1:c.-63-25619del XM_047417691.1:c.-63-25619dup XM_047417691.1:c.-63-25620_-63-25619dup XM_047417691.1:c.-63-25621_-63-25619dup XM_047417691.1:c.-63-25622_-63-25619dup XM_047417691.1:c.-63-25623_-63-25619dup XM_047417691.1:c.-63-25624_-63-25619dup XM_047417691.1:c.-63-25625_-63-25619dup XM_047417691.1:c.-63-25626_-63-25619dup XM_047417691.1:c.-63-25627_-63-25619dup XM_047417691.1:c.-63-25628_-63-25619dup XM_047417691.1:c.-63-25629_-63-25619dup XM_047417691.1:c.-63-25630_-63-25619dup XM_047417691.1:c.-63-25631_-63-25619dup XM_047417691.1:c.-63-25632_-63-25619dup XM_047417691.1:c.-63-25633_-63-25619dup XM_047417691.1:c.-63-25634_-63-25619dup XM_047417691.1:c.-63-25635_-63-25619dup XM_047417691.1:c.-63-25636_-63-25619dup
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#.

68 SubSNP, 44 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss5403886 Mar 15, 2016 (147)
2 BCMHGSC_JDW ss103718787 Dec 01, 2009 (131)
3 BUSHMAN ss193826111 Mar 15, 2016 (147)
4 BILGI_BIOE ss666329960 Apr 25, 2013 (138)
5 EVA_UK10K_ALSPAC ss1704891672 Apr 01, 2015 (144)
6 EVA_UK10K_TWINSUK ss1704891821 Apr 01, 2015 (144)
7 EVA_UK10K_ALSPAC ss1710233499 Apr 01, 2015 (144)
8 EVA_UK10K_TWINSUK ss1710233512 Apr 01, 2015 (144)
9 EVA_DECODE ss3715807803 Jul 13, 2019 (153)
10 EVA_DECODE ss3715807804 Jul 13, 2019 (153)
11 EVA_DECODE ss3715807805 Jul 13, 2019 (153)
12 EVA_DECODE ss3715807806 Jul 13, 2019 (153)
13 EVA_DECODE ss3715807807 Jul 13, 2019 (153)
14 EVA_DECODE ss3715807808 Jul 13, 2019 (153)
15 ACPOP ss3732863333 Jul 13, 2019 (153)
16 ACPOP ss3732863334 Jul 13, 2019 (153)
17 ACPOP ss3732863335 Jul 13, 2019 (153)
18 EVA ss3829530744 Apr 26, 2020 (154)
19 GNOMAD ss4130305055 Apr 26, 2021 (155)
20 GNOMAD ss4130305056 Apr 26, 2021 (155)
21 GNOMAD ss4130305057 Apr 26, 2021 (155)
22 GNOMAD ss4130305058 Apr 26, 2021 (155)
23 GNOMAD ss4130305059 Apr 26, 2021 (155)
24 GNOMAD ss4130305060 Apr 26, 2021 (155)
25 GNOMAD ss4130305061 Apr 26, 2021 (155)
26 GNOMAD ss4130305062 Apr 26, 2021 (155)
27 GNOMAD ss4130305063 Apr 26, 2021 (155)
28 GNOMAD ss4130305064 Apr 26, 2021 (155)
29 GNOMAD ss4130305065 Apr 26, 2021 (155)
30 GNOMAD ss4130305066 Apr 26, 2021 (155)
31 GNOMAD ss4130305067 Apr 26, 2021 (155)
32 GNOMAD ss4130305068 Apr 26, 2021 (155)
33 GNOMAD ss4130305069 Apr 26, 2021 (155)
34 GNOMAD ss4130305070 Apr 26, 2021 (155)
35 GNOMAD ss4130305071 Apr 26, 2021 (155)
36 GNOMAD ss4130305072 Apr 26, 2021 (155)
37 GNOMAD ss4130305073 Apr 26, 2021 (155)
38 GNOMAD ss4130305074 Apr 26, 2021 (155)
39 GNOMAD ss4130305075 Apr 26, 2021 (155)
40 GNOMAD ss4130305076 Apr 26, 2021 (155)
41 GNOMAD ss4130305077 Apr 26, 2021 (155)
42 GNOMAD ss4130305078 Apr 26, 2021 (155)
43 GNOMAD ss4130305079 Apr 26, 2021 (155)
44 GNOMAD ss4130305080 Apr 26, 2021 (155)
45 GNOMAD ss4130305081 Apr 26, 2021 (155)
46 TOPMED ss4680671912 Apr 26, 2021 (155)
47 TOMMO_GENOMICS ss5174393437 Apr 26, 2021 (155)
48 TOMMO_GENOMICS ss5174393438 Apr 26, 2021 (155)
49 TOMMO_GENOMICS ss5174393439 Apr 26, 2021 (155)
50 TOMMO_GENOMICS ss5174393440 Apr 26, 2021 (155)
51 1000G_HIGH_COVERAGE ss5266037825 Oct 13, 2022 (156)
52 1000G_HIGH_COVERAGE ss5266037826 Oct 13, 2022 (156)
53 1000G_HIGH_COVERAGE ss5266037827 Oct 13, 2022 (156)
54 1000G_HIGH_COVERAGE ss5266037828 Oct 13, 2022 (156)
55 1000G_HIGH_COVERAGE ss5266037829 Oct 13, 2022 (156)
56 1000G_HIGH_COVERAGE ss5266037830 Oct 13, 2022 (156)
57 HUGCELL_USP ss5463984463 Oct 13, 2022 (156)
58 HUGCELL_USP ss5463984464 Oct 13, 2022 (156)
59 HUGCELL_USP ss5463984465 Oct 13, 2022 (156)
60 HUGCELL_USP ss5463984466 Oct 13, 2022 (156)
61 HUGCELL_USP ss5463984467 Oct 13, 2022 (156)
62 HUGCELL_USP ss5463984468 Oct 13, 2022 (156)
63 TOMMO_GENOMICS ss5711546542 Oct 13, 2022 (156)
64 TOMMO_GENOMICS ss5711546543 Oct 13, 2022 (156)
65 TOMMO_GENOMICS ss5711546544 Oct 13, 2022 (156)
66 TOMMO_GENOMICS ss5711546546 Oct 13, 2022 (156)
67 EVA ss5835717089 Oct 13, 2022 (156)
68 EVA ss5835717090 Oct 13, 2022 (156)
69 The Avon Longitudinal Study of Parents and Children NC_000005.9 - 138954321 Oct 12, 2018 (152)
70 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 206018131 (NC_000005.10:139574735::A 3210/63710)
Row 206018132 (NC_000005.10:139574735::AA 14/63922)
Row 206018133 (NC_000005.10:139574735::AAA 4/63926)...

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

Submission ignored due to conflicting rows:
Row 206018131 (NC_000005.10:139574735::A 3210/63710)
Row 206018132 (NC_000005.10:139574735::AA 14/63922)
Row 206018133 (NC_000005.10:139574735::AAA 4/63926)...

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

Submission ignored due to conflicting rows:
Row 206018131 (NC_000005.10:139574735::A 3210/63710)
Row 206018132 (NC_000005.10:139574735::AA 14/63922)
Row 206018133 (NC_000005.10:139574735::AAA 4/63926)...

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

Submission ignored due to conflicting rows:
Row 206018131 (NC_000005.10:139574735::A 3210/63710)
Row 206018132 (NC_000005.10:139574735::AA 14/63922)
Row 206018133 (NC_000005.10:139574735::AAA 4/63926)...

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

Submission ignored due to conflicting rows:
Row 206018131 (NC_000005.10:139574735::A 3210/63710)
Row 206018132 (NC_000005.10:139574735::AA 14/63922)
Row 206018133 (NC_000005.10:139574735::AAA 4/63926)...

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

Submission ignored due to conflicting rows:
Row 206018131 (NC_000005.10:139574735::A 3210/63710)
Row 206018132 (NC_000005.10:139574735::AA 14/63922)
Row 206018133 (NC_000005.10:139574735::AAA 4/63926)...

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

Submission ignored due to conflicting rows:
Row 206018131 (NC_000005.10:139574735::A 3210/63710)
Row 206018132 (NC_000005.10:139574735::AA 14/63922)
Row 206018133 (NC_000005.10:139574735::AAA 4/63926)...

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

Submission ignored due to conflicting rows:
Row 206018131 (NC_000005.10:139574735::A 3210/63710)
Row 206018132 (NC_000005.10:139574735::AA 14/63922)
Row 206018133 (NC_000005.10:139574735::AAA 4/63926)...

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

Submission ignored due to conflicting rows:
Row 206018131 (NC_000005.10:139574735::A 3210/63710)
Row 206018132 (NC_000005.10:139574735::AA 14/63922)
Row 206018133 (NC_000005.10:139574735::AAA 4/63926)...

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

Submission ignored due to conflicting rows:
Row 206018131 (NC_000005.10:139574735::A 3210/63710)
Row 206018132 (NC_000005.10:139574735::AA 14/63922)
Row 206018133 (NC_000005.10:139574735::AAA 4/63926)...

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

Submission ignored due to conflicting rows:
Row 206018131 (NC_000005.10:139574735::A 3210/63710)
Row 206018132 (NC_000005.10:139574735::AA 14/63922)
Row 206018133 (NC_000005.10:139574735::AAA 4/63926)...

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

Submission ignored due to conflicting rows:
Row 206018131 (NC_000005.10:139574735::A 3210/63710)
Row 206018132 (NC_000005.10:139574735::AA 14/63922)
Row 206018133 (NC_000005.10:139574735::AAA 4/63926)...

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

Submission ignored due to conflicting rows:
Row 206018131 (NC_000005.10:139574735::A 3210/63710)
Row 206018132 (NC_000005.10:139574735::AA 14/63922)
Row 206018133 (NC_000005.10:139574735::AAA 4/63926)...

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

Submission ignored due to conflicting rows:
Row 206018131 (NC_000005.10:139574735::A 3210/63710)
Row 206018132 (NC_000005.10:139574735::AA 14/63922)
Row 206018133 (NC_000005.10:139574735::AAA 4/63926)...

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

Submission ignored due to conflicting rows:
Row 206018131 (NC_000005.10:139574735::A 3210/63710)
Row 206018132 (NC_000005.10:139574735::AA 14/63922)
Row 206018133 (NC_000005.10:139574735::AAA 4/63926)...

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

Submission ignored due to conflicting rows:
Row 206018131 (NC_000005.10:139574735::A 3210/63710)
Row 206018132 (NC_000005.10:139574735::AA 14/63922)
Row 206018133 (NC_000005.10:139574735::AAA 4/63926)...

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

Submission ignored due to conflicting rows:
Row 206018131 (NC_000005.10:139574735::A 3210/63710)
Row 206018132 (NC_000005.10:139574735::AA 14/63922)
Row 206018133 (NC_000005.10:139574735::AAA 4/63926)...

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

Submission ignored due to conflicting rows:
Row 206018131 (NC_000005.10:139574735::A 3210/63710)
Row 206018132 (NC_000005.10:139574735::AA 14/63922)
Row 206018133 (NC_000005.10:139574735::AAA 4/63926)...

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

Submission ignored due to conflicting rows:
Row 206018131 (NC_000005.10:139574735::A 3210/63710)
Row 206018132 (NC_000005.10:139574735::AA 14/63922)
Row 206018133 (NC_000005.10:139574735::AAA 4/63926)...

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

Submission ignored due to conflicting rows:
Row 206018131 (NC_000005.10:139574735::A 3210/63710)
Row 206018132 (NC_000005.10:139574735::AA 14/63922)
Row 206018133 (NC_000005.10:139574735::AAA 4/63926)...

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

Submission ignored due to conflicting rows:
Row 206018131 (NC_000005.10:139574735::A 3210/63710)
Row 206018132 (NC_000005.10:139574735::AA 14/63922)
Row 206018133 (NC_000005.10:139574735::AAA 4/63926)...

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

Submission ignored due to conflicting rows:
Row 206018131 (NC_000005.10:139574735::A 3210/63710)
Row 206018132 (NC_000005.10:139574735::AA 14/63922)
Row 206018133 (NC_000005.10:139574735::AAA 4/63926)...

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

Submission ignored due to conflicting rows:
Row 206018131 (NC_000005.10:139574735::A 3210/63710)
Row 206018132 (NC_000005.10:139574735::AA 14/63922)
Row 206018133 (NC_000005.10:139574735::AAA 4/63926)...

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

Submission ignored due to conflicting rows:
Row 206018131 (NC_000005.10:139574735::A 3210/63710)
Row 206018132 (NC_000005.10:139574735::AA 14/63922)
Row 206018133 (NC_000005.10:139574735::AAA 4/63926)...

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

Submission ignored due to conflicting rows:
Row 206018131 (NC_000005.10:139574735::A 3210/63710)
Row 206018132 (NC_000005.10:139574735::AA 14/63922)
Row 206018133 (NC_000005.10:139574735::AAA 4/63926)...

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

Submission ignored due to conflicting rows:
Row 206018131 (NC_000005.10:139574735::A 3210/63710)
Row 206018132 (NC_000005.10:139574735::AA 14/63922)
Row 206018133 (NC_000005.10:139574735::AAA 4/63926)...

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

Submission ignored due to conflicting rows:
Row 206018131 (NC_000005.10:139574735::A 3210/63710)
Row 206018132 (NC_000005.10:139574735::AA 14/63922)
Row 206018133 (NC_000005.10:139574735::AAA 4/63926)...

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

Submission ignored due to conflicting rows:
Row 206018131 (NC_000005.10:139574735::A 3210/63710)
Row 206018132 (NC_000005.10:139574735::AA 14/63922)
Row 206018133 (NC_000005.10:139574735::AAA 4/63926)...

- Apr 26, 2021 (155)
98 Northern Sweden

Submission ignored due to conflicting rows:
Row 6148198 (NC_000005.9:138954320::AAAAAA 2/568)
Row 6148199 (NC_000005.9:138954320:AA: 5/568)
Row 6148200 (NC_000005.9:138954320:AAAAAAAAA: 7/568)

- Jul 13, 2019 (153)
99 Northern Sweden

Submission ignored due to conflicting rows:
Row 6148198 (NC_000005.9:138954320::AAAAAA 2/568)
Row 6148199 (NC_000005.9:138954320:AA: 5/568)
Row 6148200 (NC_000005.9:138954320:AAAAAAAAA: 7/568)

- Jul 13, 2019 (153)
100 Northern Sweden

Submission ignored due to conflicting rows:
Row 6148198 (NC_000005.9:138954320::AAAAAA 2/568)
Row 6148199 (NC_000005.9:138954320:AA: 5/568)
Row 6148200 (NC_000005.9:138954320:AAAAAAAAA: 7/568)

- Jul 13, 2019 (153)
101 8.3KJPN

Submission ignored due to conflicting rows:
Row 32362744 (NC_000005.9:138954320:A: 473/16700)
Row 32362745 (NC_000005.9:138954320:AA: 554/16700)
Row 32362746 (NC_000005.9:138954320::A 436/16700)...

- Apr 26, 2021 (155)
102 8.3KJPN

Submission ignored due to conflicting rows:
Row 32362744 (NC_000005.9:138954320:A: 473/16700)
Row 32362745 (NC_000005.9:138954320:AA: 554/16700)
Row 32362746 (NC_000005.9:138954320::A 436/16700)...

- Apr 26, 2021 (155)
103 8.3KJPN

Submission ignored due to conflicting rows:
Row 32362744 (NC_000005.9:138954320:A: 473/16700)
Row 32362745 (NC_000005.9:138954320:AA: 554/16700)
Row 32362746 (NC_000005.9:138954320::A 436/16700)...

- Apr 26, 2021 (155)
104 8.3KJPN

Submission ignored due to conflicting rows:
Row 32362744 (NC_000005.9:138954320:A: 473/16700)
Row 32362745 (NC_000005.9:138954320:AA: 554/16700)
Row 32362746 (NC_000005.9:138954320::A 436/16700)...

- Apr 26, 2021 (155)
105 14KJPN

Submission ignored due to conflicting rows:
Row 45383646 (NC_000005.10:139574735:AA: 974/28244)
Row 45383647 (NC_000005.10:139574735:A: 830/28244)
Row 45383648 (NC_000005.10:139574735::A 832/28244)...

- Oct 13, 2022 (156)
106 14KJPN

Submission ignored due to conflicting rows:
Row 45383646 (NC_000005.10:139574735:AA: 974/28244)
Row 45383647 (NC_000005.10:139574735:A: 830/28244)
Row 45383648 (NC_000005.10:139574735::A 832/28244)...

- Oct 13, 2022 (156)
107 14KJPN

Submission ignored due to conflicting rows:
Row 45383646 (NC_000005.10:139574735:AA: 974/28244)
Row 45383647 (NC_000005.10:139574735:A: 830/28244)
Row 45383648 (NC_000005.10:139574735::A 832/28244)...

- Oct 13, 2022 (156)
108 14KJPN

Submission ignored due to conflicting rows:
Row 45383646 (NC_000005.10:139574735:AA: 974/28244)
Row 45383647 (NC_000005.10:139574735:A: 830/28244)
Row 45383648 (NC_000005.10:139574735::A 832/28244)...

- Oct 13, 2022 (156)
109 TopMed NC_000005.10 - 139574736 Apr 26, 2021 (155)
110 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 16201559 (NC_000005.9:138954327:AA: 270/3708)
Row 16201560 (NC_000005.9:138954320:AAAAAAAAA: 39/3708)

- Apr 26, 2020 (154)
111 UK 10K study - Twins - Oct 12, 2018 (152)
112 ALFA NC_000005.10 - 139574736 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)
rs112007992 May 11, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
518049469, ss4130305081, ss4680671912 NC_000005.10:139574735:AAAAAAAAAAA: NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAA

(self)
909424840 NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAA

NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAA

(self)
909424840 NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAA

NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAA

(self)
16201560, ss1704891672, ss1704891821, ss3732863335, ss5835717090 NC_000005.9:138954320:AAAAAAAAA: NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
ss3715807808, ss4130305080, ss5266037830, ss5463984468 NC_000005.10:139574735:AAAAAAAAA: NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
909424840 NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAA

NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
ss4130305079 NC_000005.10:139574735:AAAAAAAA: NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
909424840 NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA

NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
ss4130305078 NC_000005.10:139574735:AAAAAAA: NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
909424840 NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss4130305077 NC_000005.10:139574735:AAAAAA: NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss5174393440 NC_000005.9:138954320:AAAAA: NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss4130305076, ss5711546546 NC_000005.10:139574735:AAAAA: NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
909424840 NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss3715807807 NC_000005.10:139574739:AAAAA: NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss4130305075, ss5463984467 NC_000005.10:139574735:AAAA: NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
909424840 NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3715807806 NC_000005.10:139574740:AAAA: NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss103718787 NT_029289.11:117261:AAAA: NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss4130305074 NC_000005.10:139574735:AAA: NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
909424840 NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss666329960, ss3732863334, ss3829530744, ss5174393438, ss5835717089 NC_000005.9:138954320:AA: NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss1710233499, ss1710233512 NC_000005.9:138954327:AA: NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4130305073, ss5266037825, ss5463984465, ss5711546542 NC_000005.10:139574735:AA: NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
909424840 NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3715807805 NC_000005.10:139574742:AA: NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss193826111 NT_029289.11:117247:AA: NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss5174393437 NC_000005.9:138954320:A: NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss5266037828, ss5463984463, ss5711546543 NC_000005.10:139574735:A: NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
909424840 NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3715807804 NC_000005.10:139574743:A: NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss5403886 NT_029289.11:117264:A: NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss5174393439 NC_000005.9:138954320::A NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss4130305055, ss5266037829, ss5463984464, ss5711546544 NC_000005.10:139574735::A NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
909424840 NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3715807803 NC_000005.10:139574744::A NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss5403886 NT_029289.11:117264:A:AA NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss4130305056 NC_000005.10:139574735::AA NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
909424840 NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4130305057 NC_000005.10:139574735::AAA NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss4130305058 NC_000005.10:139574735::AAAA NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
909424840 NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4130305059 NC_000005.10:139574735::AAAAA NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
909424840 NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3732863333 NC_000005.9:138954320::AAAAAA NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4130305060, ss5266037827, ss5463984466 NC_000005.10:139574735::AAAAAA NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
909424840 NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4130305061, ss5266037826 NC_000005.10:139574735::AAAAAAA NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
909424840 NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4130305062 NC_000005.10:139574735::AAAAAAAA NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
909424840 NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4130305063 NC_000005.10:139574735::AAAAAAAAA NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
909424840 NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4130305064 NC_000005.10:139574735::AAAAAAAAAA NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4130305065 NC_000005.10:139574735::AAAAAAAAAAA NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4130305066 NC_000005.10:139574735::AAAAAAAAAA…

NC_000005.10:139574735::AAAAAAAAAAAA

NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4130305067 NC_000005.10:139574735::AAAAAAAAAA…

NC_000005.10:139574735::AAAAAAAAAAAAA

NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4130305068 NC_000005.10:139574735::AAAAAAAAAA…

NC_000005.10:139574735::AAAAAAAAAAAAAA

NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4130305069 NC_000005.10:139574735::AAAAAAAAAA…

NC_000005.10:139574735::AAAAAAAAAAAAAAA

NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4130305070 NC_000005.10:139574735::AAAAAAAAAA…

NC_000005.10:139574735::AAAAAAAAAAAAAAAA

NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4130305071 NC_000005.10:139574735::AAAAAAAAAA…

NC_000005.10:139574735::AAAAAAAAAAAAAAAAA

NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4130305072 NC_000005.10:139574735::AAAAAAAAAA…

NC_000005.10:139574735::AAAAAAAAAAAAAAAAAA

NC_000005.10:139574735:AAAAAAAAAAA…

NC_000005.10:139574735:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(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 rs75539434

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