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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.

rs35059681

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:176988131-176988151 (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)12 / del(A)11 / del(A)10 / d…

del(A)12 / del(A)11 / del(A)10 / del(A)7 / del(A)6 / del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)4 / dup(A)5

Variation Type
Indel Insertion and Deletion
Frequency
del(A)12=0.000011 (3/264690, TOPMED)
delAA=0.4401 (2204/5008, 1000G)
del(A)12=0.0000 (0/3014, ALFA) (+ 10 more)
del(A)11=0.0000 (0/3014, ALFA)
del(A)10=0.0000 (0/3014, ALFA)
del(A)7=0.0000 (0/3014, ALFA)
del(A)6=0.0000 (0/3014, ALFA)
delAAA=0.0000 (0/3014, ALFA)
delAA=0.0000 (0/3014, ALFA)
delA=0.0000 (0/3014, ALFA)
dupA=0.0000 (0/3014, ALFA)
dupAA=0.0000 (0/3014, ALFA)
dup(A)5=0.0000 (0/3014, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
UIMC1 : 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 3014 AAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 2288 AAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 250 AAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 12 AAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 238 AAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 40 AAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 28 AAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 12 AAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 32 AAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 264 AAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 32 AAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 108 AAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=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)21=0.999989 del(A)12=0.000011
1000Genomes Global Study-wide 5008 (A)21=0.5599 delAA=0.4401
1000Genomes African Sub 1322 (A)21=0.4970 delAA=0.5030
1000Genomes East Asian Sub 1008 (A)21=0.5317 delAA=0.4683
1000Genomes Europe Sub 1006 (A)21=0.5467 delAA=0.4533
1000Genomes South Asian Sub 978 (A)21=0.626 delAA=0.374
1000Genomes American Sub 694 (A)21=0.647 delAA=0.353
Allele Frequency Aggregator Total Global 3014 (A)21=1.0000 del(A)12=0.0000, del(A)11=0.0000, del(A)10=0.0000, del(A)7=0.0000, del(A)6=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dup(A)5=0.0000
Allele Frequency Aggregator European Sub 2288 (A)21=1.0000 del(A)12=0.0000, del(A)11=0.0000, del(A)10=0.0000, del(A)7=0.0000, del(A)6=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dup(A)5=0.0000
Allele Frequency Aggregator Latin American 2 Sub 264 (A)21=1.000 del(A)12=0.000, del(A)11=0.000, del(A)10=0.000, del(A)7=0.000, del(A)6=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dup(A)5=0.000
Allele Frequency Aggregator African Sub 250 (A)21=1.000 del(A)12=0.000, del(A)11=0.000, del(A)10=0.000, del(A)7=0.000, del(A)6=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dup(A)5=0.000
Allele Frequency Aggregator Other Sub 108 (A)21=1.000 del(A)12=0.000, del(A)11=0.000, del(A)10=0.000, del(A)7=0.000, del(A)6=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dup(A)5=0.000
Allele Frequency Aggregator Asian Sub 40 (A)21=1.00 del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, del(A)7=0.00, del(A)6=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dup(A)5=0.00
Allele Frequency Aggregator Latin American 1 Sub 32 (A)21=1.00 del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, del(A)7=0.00, del(A)6=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dup(A)5=0.00
Allele Frequency Aggregator South Asian Sub 32 (A)21=1.00 del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, del(A)7=0.00, del(A)6=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dup(A)5=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 5 NC_000005.10:g.176988140_176988151del
GRCh38.p14 chr 5 NC_000005.10:g.176988141_176988151del
GRCh38.p14 chr 5 NC_000005.10:g.176988142_176988151del
GRCh38.p14 chr 5 NC_000005.10:g.176988145_176988151del
GRCh38.p14 chr 5 NC_000005.10:g.176988146_176988151del
GRCh38.p14 chr 5 NC_000005.10:g.176988147_176988151del
GRCh38.p14 chr 5 NC_000005.10:g.176988148_176988151del
GRCh38.p14 chr 5 NC_000005.10:g.176988149_176988151del
GRCh38.p14 chr 5 NC_000005.10:g.176988150_176988151del
GRCh38.p14 chr 5 NC_000005.10:g.176988151del
GRCh38.p14 chr 5 NC_000005.10:g.176988151dup
GRCh38.p14 chr 5 NC_000005.10:g.176988150_176988151dup
GRCh38.p14 chr 5 NC_000005.10:g.176988149_176988151dup
GRCh38.p14 chr 5 NC_000005.10:g.176988148_176988151dup
GRCh38.p14 chr 5 NC_000005.10:g.176988147_176988151dup
GRCh37.p13 chr 5 NC_000005.9:g.176415141_176415152del
GRCh37.p13 chr 5 NC_000005.9:g.176415142_176415152del
GRCh37.p13 chr 5 NC_000005.9:g.176415143_176415152del
GRCh37.p13 chr 5 NC_000005.9:g.176415146_176415152del
GRCh37.p13 chr 5 NC_000005.9:g.176415147_176415152del
GRCh37.p13 chr 5 NC_000005.9:g.176415148_176415152del
GRCh37.p13 chr 5 NC_000005.9:g.176415149_176415152del
GRCh37.p13 chr 5 NC_000005.9:g.176415150_176415152del
GRCh37.p13 chr 5 NC_000005.9:g.176415151_176415152del
GRCh37.p13 chr 5 NC_000005.9:g.176415152del
GRCh37.p13 chr 5 NC_000005.9:g.176415152dup
GRCh37.p13 chr 5 NC_000005.9:g.176415151_176415152dup
GRCh37.p13 chr 5 NC_000005.9:g.176415150_176415152dup
GRCh37.p13 chr 5 NC_000005.9:g.176415149_176415152dup
GRCh37.p13 chr 5 NC_000005.9:g.176415148_176415152dup
Gene: UIMC1, ubiquitin interaction motif containing 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
UIMC1 transcript variant 1 NM_001199297.2:c.-8-5519_…

NM_001199297.2:c.-8-5519_-8-5508del

N/A Intron Variant
UIMC1 transcript variant 3 NM_001199298.2:c.-8-5519_…

NM_001199298.2:c.-8-5519_-8-5508del

N/A Intron Variant
UIMC1 transcript variant 4 NM_001317961.1:c.-8-5519_…

NM_001317961.1:c.-8-5519_-8-5508del

N/A Intron Variant
UIMC1 transcript variant 2 NM_016290.4:c.-8-5519_-8-…

NM_016290.4:c.-8-5519_-8-5508del

N/A Intron Variant
UIMC1 transcript variant 5 NR_146149.1:n. N/A Intron Variant
UIMC1 transcript variant 6 NR_146150.1:n. N/A Intron Variant
UIMC1 transcript variant X1 XM_005265930.3:c.-8-5519_…

XM_005265930.3:c.-8-5519_-8-5508del

N/A Intron Variant
UIMC1 transcript variant X6 XM_005265932.4:c.-8-5519_…

XM_005265932.4:c.-8-5519_-8-5508del

N/A Intron Variant
UIMC1 transcript variant X5 XM_005265933.3:c.-8-5519_…

XM_005265933.3:c.-8-5519_-8-5508del

N/A Intron Variant
UIMC1 transcript variant X2 XM_006714871.3:c.-8-5519_…

XM_006714871.3:c.-8-5519_-8-5508del

N/A Intron Variant
UIMC1 transcript variant X4 XM_011534570.2:c.-8-5519_…

XM_011534570.2:c.-8-5519_-8-5508del

N/A Intron Variant
UIMC1 transcript variant X7 XM_017009576.2:c.-8-5519_…

XM_017009576.2:c.-8-5519_-8-5508del

N/A Intron Variant
UIMC1 transcript variant X8 XM_017009577.2:c.-8-5519_…

XM_017009577.2:c.-8-5519_-8-5508del

N/A Intron Variant
UIMC1 transcript variant X3 XM_047417303.1:c.-8-5519_…

XM_047417303.1:c.-8-5519_-8-5508del

N/A Intron Variant
UIMC1 transcript variant X9 XM_047417304.1: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)21= del(A)12 del(A)11 del(A)10 del(A)7 del(A)6 del(A)5 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)4 dup(A)5
GRCh38.p14 chr 5 NC_000005.10:g.176988131_176988151= NC_000005.10:g.176988140_176988151del NC_000005.10:g.176988141_176988151del NC_000005.10:g.176988142_176988151del NC_000005.10:g.176988145_176988151del NC_000005.10:g.176988146_176988151del NC_000005.10:g.176988147_176988151del NC_000005.10:g.176988148_176988151del NC_000005.10:g.176988149_176988151del NC_000005.10:g.176988150_176988151del NC_000005.10:g.176988151del NC_000005.10:g.176988151dup NC_000005.10:g.176988150_176988151dup NC_000005.10:g.176988149_176988151dup NC_000005.10:g.176988148_176988151dup NC_000005.10:g.176988147_176988151dup
GRCh37.p13 chr 5 NC_000005.9:g.176415132_176415152= NC_000005.9:g.176415141_176415152del NC_000005.9:g.176415142_176415152del NC_000005.9:g.176415143_176415152del NC_000005.9:g.176415146_176415152del NC_000005.9:g.176415147_176415152del NC_000005.9:g.176415148_176415152del NC_000005.9:g.176415149_176415152del NC_000005.9:g.176415150_176415152del NC_000005.9:g.176415151_176415152del NC_000005.9:g.176415152del NC_000005.9:g.176415152dup NC_000005.9:g.176415151_176415152dup NC_000005.9:g.176415150_176415152dup NC_000005.9:g.176415149_176415152dup NC_000005.9:g.176415148_176415152dup
UIMC1 transcript variant 1 NM_001199297.1:c.-8-5508= NM_001199297.1:c.-8-5519_-8-5508del NM_001199297.1:c.-8-5518_-8-5508del NM_001199297.1:c.-8-5517_-8-5508del NM_001199297.1:c.-8-5514_-8-5508del NM_001199297.1:c.-8-5513_-8-5508del NM_001199297.1:c.-8-5512_-8-5508del NM_001199297.1:c.-8-5511_-8-5508del NM_001199297.1:c.-8-5510_-8-5508del NM_001199297.1:c.-8-5509_-8-5508del NM_001199297.1:c.-8-5508del NM_001199297.1:c.-8-5508dup NM_001199297.1:c.-8-5509_-8-5508dup NM_001199297.1:c.-8-5510_-8-5508dup NM_001199297.1:c.-8-5511_-8-5508dup NM_001199297.1:c.-8-5512_-8-5508dup
UIMC1 transcript variant 1 NM_001199297.2:c.-8-5508= NM_001199297.2:c.-8-5519_-8-5508del NM_001199297.2:c.-8-5518_-8-5508del NM_001199297.2:c.-8-5517_-8-5508del NM_001199297.2:c.-8-5514_-8-5508del NM_001199297.2:c.-8-5513_-8-5508del NM_001199297.2:c.-8-5512_-8-5508del NM_001199297.2:c.-8-5511_-8-5508del NM_001199297.2:c.-8-5510_-8-5508del NM_001199297.2:c.-8-5509_-8-5508del NM_001199297.2:c.-8-5508del NM_001199297.2:c.-8-5508dup NM_001199297.2:c.-8-5509_-8-5508dup NM_001199297.2:c.-8-5510_-8-5508dup NM_001199297.2:c.-8-5511_-8-5508dup NM_001199297.2:c.-8-5512_-8-5508dup
UIMC1 transcript variant 3 NM_001199298.1:c.-8-5508= NM_001199298.1:c.-8-5519_-8-5508del NM_001199298.1:c.-8-5518_-8-5508del NM_001199298.1:c.-8-5517_-8-5508del NM_001199298.1:c.-8-5514_-8-5508del NM_001199298.1:c.-8-5513_-8-5508del NM_001199298.1:c.-8-5512_-8-5508del NM_001199298.1:c.-8-5511_-8-5508del NM_001199298.1:c.-8-5510_-8-5508del NM_001199298.1:c.-8-5509_-8-5508del NM_001199298.1:c.-8-5508del NM_001199298.1:c.-8-5508dup NM_001199298.1:c.-8-5509_-8-5508dup NM_001199298.1:c.-8-5510_-8-5508dup NM_001199298.1:c.-8-5511_-8-5508dup NM_001199298.1:c.-8-5512_-8-5508dup
UIMC1 transcript variant 3 NM_001199298.2:c.-8-5508= NM_001199298.2:c.-8-5519_-8-5508del NM_001199298.2:c.-8-5518_-8-5508del NM_001199298.2:c.-8-5517_-8-5508del NM_001199298.2:c.-8-5514_-8-5508del NM_001199298.2:c.-8-5513_-8-5508del NM_001199298.2:c.-8-5512_-8-5508del NM_001199298.2:c.-8-5511_-8-5508del NM_001199298.2:c.-8-5510_-8-5508del NM_001199298.2:c.-8-5509_-8-5508del NM_001199298.2:c.-8-5508del NM_001199298.2:c.-8-5508dup NM_001199298.2:c.-8-5509_-8-5508dup NM_001199298.2:c.-8-5510_-8-5508dup NM_001199298.2:c.-8-5511_-8-5508dup NM_001199298.2:c.-8-5512_-8-5508dup
UIMC1 transcript variant 4 NM_001317961.1:c.-8-5508= NM_001317961.1:c.-8-5519_-8-5508del NM_001317961.1:c.-8-5518_-8-5508del NM_001317961.1:c.-8-5517_-8-5508del NM_001317961.1:c.-8-5514_-8-5508del NM_001317961.1:c.-8-5513_-8-5508del NM_001317961.1:c.-8-5512_-8-5508del NM_001317961.1:c.-8-5511_-8-5508del NM_001317961.1:c.-8-5510_-8-5508del NM_001317961.1:c.-8-5509_-8-5508del NM_001317961.1:c.-8-5508del NM_001317961.1:c.-8-5508dup NM_001317961.1:c.-8-5509_-8-5508dup NM_001317961.1:c.-8-5510_-8-5508dup NM_001317961.1:c.-8-5511_-8-5508dup NM_001317961.1:c.-8-5512_-8-5508dup
UIMC1 transcript variant 2 NM_016290.4:c.-8-5508= NM_016290.4:c.-8-5519_-8-5508del NM_016290.4:c.-8-5518_-8-5508del NM_016290.4:c.-8-5517_-8-5508del NM_016290.4:c.-8-5514_-8-5508del NM_016290.4:c.-8-5513_-8-5508del NM_016290.4:c.-8-5512_-8-5508del NM_016290.4:c.-8-5511_-8-5508del NM_016290.4:c.-8-5510_-8-5508del NM_016290.4:c.-8-5509_-8-5508del NM_016290.4:c.-8-5508del NM_016290.4:c.-8-5508dup NM_016290.4:c.-8-5509_-8-5508dup NM_016290.4:c.-8-5510_-8-5508dup NM_016290.4:c.-8-5511_-8-5508dup NM_016290.4:c.-8-5512_-8-5508dup
UIMC1 transcript variant X1 XM_005265930.1:c.-8-5508= XM_005265930.1:c.-8-5519_-8-5508del XM_005265930.1:c.-8-5518_-8-5508del XM_005265930.1:c.-8-5517_-8-5508del XM_005265930.1:c.-8-5514_-8-5508del XM_005265930.1:c.-8-5513_-8-5508del XM_005265930.1:c.-8-5512_-8-5508del XM_005265930.1:c.-8-5511_-8-5508del XM_005265930.1:c.-8-5510_-8-5508del XM_005265930.1:c.-8-5509_-8-5508del XM_005265930.1:c.-8-5508del XM_005265930.1:c.-8-5508dup XM_005265930.1:c.-8-5509_-8-5508dup XM_005265930.1:c.-8-5510_-8-5508dup XM_005265930.1:c.-8-5511_-8-5508dup XM_005265930.1:c.-8-5512_-8-5508dup
UIMC1 transcript variant X1 XM_005265930.3:c.-8-5508= XM_005265930.3:c.-8-5519_-8-5508del XM_005265930.3:c.-8-5518_-8-5508del XM_005265930.3:c.-8-5517_-8-5508del XM_005265930.3:c.-8-5514_-8-5508del XM_005265930.3:c.-8-5513_-8-5508del XM_005265930.3:c.-8-5512_-8-5508del XM_005265930.3:c.-8-5511_-8-5508del XM_005265930.3:c.-8-5510_-8-5508del XM_005265930.3:c.-8-5509_-8-5508del XM_005265930.3:c.-8-5508del XM_005265930.3:c.-8-5508dup XM_005265930.3:c.-8-5509_-8-5508dup XM_005265930.3:c.-8-5510_-8-5508dup XM_005265930.3:c.-8-5511_-8-5508dup XM_005265930.3:c.-8-5512_-8-5508dup
UIMC1 transcript variant X2 XM_005265931.1:c.-8-5508= XM_005265931.1:c.-8-5519_-8-5508del XM_005265931.1:c.-8-5518_-8-5508del XM_005265931.1:c.-8-5517_-8-5508del XM_005265931.1:c.-8-5514_-8-5508del XM_005265931.1:c.-8-5513_-8-5508del XM_005265931.1:c.-8-5512_-8-5508del XM_005265931.1:c.-8-5511_-8-5508del XM_005265931.1:c.-8-5510_-8-5508del XM_005265931.1:c.-8-5509_-8-5508del XM_005265931.1:c.-8-5508del XM_005265931.1:c.-8-5508dup XM_005265931.1:c.-8-5509_-8-5508dup XM_005265931.1:c.-8-5510_-8-5508dup XM_005265931.1:c.-8-5511_-8-5508dup XM_005265931.1:c.-8-5512_-8-5508dup
UIMC1 transcript variant X3 XM_005265932.1:c.-8-5508= XM_005265932.1:c.-8-5519_-8-5508del XM_005265932.1:c.-8-5518_-8-5508del XM_005265932.1:c.-8-5517_-8-5508del XM_005265932.1:c.-8-5514_-8-5508del XM_005265932.1:c.-8-5513_-8-5508del XM_005265932.1:c.-8-5512_-8-5508del XM_005265932.1:c.-8-5511_-8-5508del XM_005265932.1:c.-8-5510_-8-5508del XM_005265932.1:c.-8-5509_-8-5508del XM_005265932.1:c.-8-5508del XM_005265932.1:c.-8-5508dup XM_005265932.1:c.-8-5509_-8-5508dup XM_005265932.1:c.-8-5510_-8-5508dup XM_005265932.1:c.-8-5511_-8-5508dup XM_005265932.1:c.-8-5512_-8-5508dup
UIMC1 transcript variant X6 XM_005265932.4:c.-8-5508= XM_005265932.4:c.-8-5519_-8-5508del XM_005265932.4:c.-8-5518_-8-5508del XM_005265932.4:c.-8-5517_-8-5508del XM_005265932.4:c.-8-5514_-8-5508del XM_005265932.4:c.-8-5513_-8-5508del XM_005265932.4:c.-8-5512_-8-5508del XM_005265932.4:c.-8-5511_-8-5508del XM_005265932.4:c.-8-5510_-8-5508del XM_005265932.4:c.-8-5509_-8-5508del XM_005265932.4:c.-8-5508del XM_005265932.4:c.-8-5508dup XM_005265932.4:c.-8-5509_-8-5508dup XM_005265932.4:c.-8-5510_-8-5508dup XM_005265932.4:c.-8-5511_-8-5508dup XM_005265932.4:c.-8-5512_-8-5508dup
UIMC1 transcript variant X4 XM_005265933.1:c.-8-5508= XM_005265933.1:c.-8-5519_-8-5508del XM_005265933.1:c.-8-5518_-8-5508del XM_005265933.1:c.-8-5517_-8-5508del XM_005265933.1:c.-8-5514_-8-5508del XM_005265933.1:c.-8-5513_-8-5508del XM_005265933.1:c.-8-5512_-8-5508del XM_005265933.1:c.-8-5511_-8-5508del XM_005265933.1:c.-8-5510_-8-5508del XM_005265933.1:c.-8-5509_-8-5508del XM_005265933.1:c.-8-5508del XM_005265933.1:c.-8-5508dup XM_005265933.1:c.-8-5509_-8-5508dup XM_005265933.1:c.-8-5510_-8-5508dup XM_005265933.1:c.-8-5511_-8-5508dup XM_005265933.1:c.-8-5512_-8-5508dup
UIMC1 transcript variant X5 XM_005265933.3:c.-8-5508= XM_005265933.3:c.-8-5519_-8-5508del XM_005265933.3:c.-8-5518_-8-5508del XM_005265933.3:c.-8-5517_-8-5508del XM_005265933.3:c.-8-5514_-8-5508del XM_005265933.3:c.-8-5513_-8-5508del XM_005265933.3:c.-8-5512_-8-5508del XM_005265933.3:c.-8-5511_-8-5508del XM_005265933.3:c.-8-5510_-8-5508del XM_005265933.3:c.-8-5509_-8-5508del XM_005265933.3:c.-8-5508del XM_005265933.3:c.-8-5508dup XM_005265933.3:c.-8-5509_-8-5508dup XM_005265933.3:c.-8-5510_-8-5508dup XM_005265933.3:c.-8-5511_-8-5508dup XM_005265933.3:c.-8-5512_-8-5508dup
UIMC1 transcript variant X5 XM_005265934.1:c.-381-5508= XM_005265934.1:c.-381-5519_-381-5508del XM_005265934.1:c.-381-5518_-381-5508del XM_005265934.1:c.-381-5517_-381-5508del XM_005265934.1:c.-381-5514_-381-5508del XM_005265934.1:c.-381-5513_-381-5508del XM_005265934.1:c.-381-5512_-381-5508del XM_005265934.1:c.-381-5511_-381-5508del XM_005265934.1:c.-381-5510_-381-5508del XM_005265934.1:c.-381-5509_-381-5508del XM_005265934.1:c.-381-5508del XM_005265934.1:c.-381-5508dup XM_005265934.1:c.-381-5509_-381-5508dup XM_005265934.1:c.-381-5510_-381-5508dup XM_005265934.1:c.-381-5511_-381-5508dup XM_005265934.1:c.-381-5512_-381-5508dup
UIMC1 transcript variant X6 XM_005265935.1:c.-381-5508= XM_005265935.1:c.-381-5519_-381-5508del XM_005265935.1:c.-381-5518_-381-5508del XM_005265935.1:c.-381-5517_-381-5508del XM_005265935.1:c.-381-5514_-381-5508del XM_005265935.1:c.-381-5513_-381-5508del XM_005265935.1:c.-381-5512_-381-5508del XM_005265935.1:c.-381-5511_-381-5508del XM_005265935.1:c.-381-5510_-381-5508del XM_005265935.1:c.-381-5509_-381-5508del XM_005265935.1:c.-381-5508del XM_005265935.1:c.-381-5508dup XM_005265935.1:c.-381-5509_-381-5508dup XM_005265935.1:c.-381-5510_-381-5508dup XM_005265935.1:c.-381-5511_-381-5508dup XM_005265935.1:c.-381-5512_-381-5508dup
UIMC1 transcript variant X7 XM_005265936.1:c.-381-5508= XM_005265936.1:c.-381-5519_-381-5508del XM_005265936.1:c.-381-5518_-381-5508del XM_005265936.1:c.-381-5517_-381-5508del XM_005265936.1:c.-381-5514_-381-5508del XM_005265936.1:c.-381-5513_-381-5508del XM_005265936.1:c.-381-5512_-381-5508del XM_005265936.1:c.-381-5511_-381-5508del XM_005265936.1:c.-381-5510_-381-5508del XM_005265936.1:c.-381-5509_-381-5508del XM_005265936.1:c.-381-5508del XM_005265936.1:c.-381-5508dup XM_005265936.1:c.-381-5509_-381-5508dup XM_005265936.1:c.-381-5510_-381-5508dup XM_005265936.1:c.-381-5511_-381-5508dup XM_005265936.1:c.-381-5512_-381-5508dup
UIMC1 transcript variant X2 XM_006714871.3:c.-8-5508= XM_006714871.3:c.-8-5519_-8-5508del XM_006714871.3:c.-8-5518_-8-5508del XM_006714871.3:c.-8-5517_-8-5508del XM_006714871.3:c.-8-5514_-8-5508del XM_006714871.3:c.-8-5513_-8-5508del XM_006714871.3:c.-8-5512_-8-5508del XM_006714871.3:c.-8-5511_-8-5508del XM_006714871.3:c.-8-5510_-8-5508del XM_006714871.3:c.-8-5509_-8-5508del XM_006714871.3:c.-8-5508del XM_006714871.3:c.-8-5508dup XM_006714871.3:c.-8-5509_-8-5508dup XM_006714871.3:c.-8-5510_-8-5508dup XM_006714871.3:c.-8-5511_-8-5508dup XM_006714871.3:c.-8-5512_-8-5508dup
UIMC1 transcript variant X4 XM_011534570.2:c.-8-5508= XM_011534570.2:c.-8-5519_-8-5508del XM_011534570.2:c.-8-5518_-8-5508del XM_011534570.2:c.-8-5517_-8-5508del XM_011534570.2:c.-8-5514_-8-5508del XM_011534570.2:c.-8-5513_-8-5508del XM_011534570.2:c.-8-5512_-8-5508del XM_011534570.2:c.-8-5511_-8-5508del XM_011534570.2:c.-8-5510_-8-5508del XM_011534570.2:c.-8-5509_-8-5508del XM_011534570.2:c.-8-5508del XM_011534570.2:c.-8-5508dup XM_011534570.2:c.-8-5509_-8-5508dup XM_011534570.2:c.-8-5510_-8-5508dup XM_011534570.2:c.-8-5511_-8-5508dup XM_011534570.2:c.-8-5512_-8-5508dup
UIMC1 transcript variant X7 XM_017009576.2:c.-8-5508= XM_017009576.2:c.-8-5519_-8-5508del XM_017009576.2:c.-8-5518_-8-5508del XM_017009576.2:c.-8-5517_-8-5508del XM_017009576.2:c.-8-5514_-8-5508del XM_017009576.2:c.-8-5513_-8-5508del XM_017009576.2:c.-8-5512_-8-5508del XM_017009576.2:c.-8-5511_-8-5508del XM_017009576.2:c.-8-5510_-8-5508del XM_017009576.2:c.-8-5509_-8-5508del XM_017009576.2:c.-8-5508del XM_017009576.2:c.-8-5508dup XM_017009576.2:c.-8-5509_-8-5508dup XM_017009576.2:c.-8-5510_-8-5508dup XM_017009576.2:c.-8-5511_-8-5508dup XM_017009576.2:c.-8-5512_-8-5508dup
UIMC1 transcript variant X8 XM_017009577.2:c.-8-5508= XM_017009577.2:c.-8-5519_-8-5508del XM_017009577.2:c.-8-5518_-8-5508del XM_017009577.2:c.-8-5517_-8-5508del XM_017009577.2:c.-8-5514_-8-5508del XM_017009577.2:c.-8-5513_-8-5508del XM_017009577.2:c.-8-5512_-8-5508del XM_017009577.2:c.-8-5511_-8-5508del XM_017009577.2:c.-8-5510_-8-5508del XM_017009577.2:c.-8-5509_-8-5508del XM_017009577.2:c.-8-5508del XM_017009577.2:c.-8-5508dup XM_017009577.2:c.-8-5509_-8-5508dup XM_017009577.2:c.-8-5510_-8-5508dup XM_017009577.2:c.-8-5511_-8-5508dup XM_017009577.2:c.-8-5512_-8-5508dup
UIMC1 transcript variant X3 XM_047417303.1:c.-8-5508= XM_047417303.1:c.-8-5519_-8-5508del XM_047417303.1:c.-8-5518_-8-5508del XM_047417303.1:c.-8-5517_-8-5508del XM_047417303.1:c.-8-5514_-8-5508del XM_047417303.1:c.-8-5513_-8-5508del XM_047417303.1:c.-8-5512_-8-5508del XM_047417303.1:c.-8-5511_-8-5508del XM_047417303.1:c.-8-5510_-8-5508del XM_047417303.1:c.-8-5509_-8-5508del XM_047417303.1:c.-8-5508del XM_047417303.1:c.-8-5508dup XM_047417303.1:c.-8-5509_-8-5508dup XM_047417303.1:c.-8-5510_-8-5508dup XM_047417303.1:c.-8-5511_-8-5508dup XM_047417303.1:c.-8-5512_-8-5508dup
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#.

57 SubSNP, 29 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss42404619 Dec 03, 2013 (142)
2 HGSV ss79947493 Dec 16, 2007 (130)
3 HUMANGENOME_JCVI ss95415421 Dec 05, 2013 (142)
4 HUMANGENOME_JCVI ss98686054 Mar 15, 2016 (147)
5 PJP ss295258410 May 09, 2011 (137)
6 PJP ss295258411 May 09, 2011 (135)
7 1000GENOMES ss1374902262 Aug 21, 2014 (142)
8 EVA_UK10K_ALSPAC ss1704989990 Apr 01, 2015 (144)
9 EVA_UK10K_TWINSUK ss1704990021 Apr 01, 2015 (144)
10 EVA_UK10K_TWINSUK ss1710246592 Apr 01, 2015 (144)
11 EVA_UK10K_ALSPAC ss1710246595 Apr 01, 2015 (144)
12 ILLUMINA ss2136302354 Dec 20, 2016 (150)
13 ILLUMINA ss3022561048 Nov 08, 2017 (151)
14 MCHAISSO ss3066058149 Nov 08, 2017 (151)
15 ILLUMINA ss3653068168 Oct 12, 2018 (152)
16 EVA_DECODE ss3716337530 Jul 13, 2019 (153)
17 EVA_DECODE ss3716337531 Jul 13, 2019 (153)
18 EVA_DECODE ss3716337532 Jul 13, 2019 (153)
19 EVA_DECODE ss3716337533 Jul 13, 2019 (153)
20 EVA_DECODE ss3716337534 Jul 13, 2019 (153)
21 EVA_DECODE ss3716337535 Jul 13, 2019 (153)
22 PACBIO ss3785336438 Jul 13, 2019 (153)
23 PACBIO ss3790706190 Jul 13, 2019 (153)
24 PACBIO ss3795583373 Jul 13, 2019 (153)
25 KHV_HUMAN_GENOMES ss3807622589 Jul 13, 2019 (153)
26 EVA ss3829665470 Apr 26, 2020 (154)
27 GNOMAD ss4134946550 Apr 26, 2021 (155)
28 GNOMAD ss4134946551 Apr 26, 2021 (155)
29 GNOMAD ss4134946552 Apr 26, 2021 (155)
30 GNOMAD ss4134946553 Apr 26, 2021 (155)
31 GNOMAD ss4134946554 Apr 26, 2021 (155)
32 GNOMAD ss4134946555 Apr 26, 2021 (155)
33 GNOMAD ss4134946556 Apr 26, 2021 (155)
34 GNOMAD ss4134946557 Apr 26, 2021 (155)
35 GNOMAD ss4134946558 Apr 26, 2021 (155)
36 GNOMAD ss4134946559 Apr 26, 2021 (155)
37 GNOMAD ss4134946560 Apr 26, 2021 (155)
38 GNOMAD ss4134946561 Apr 26, 2021 (155)
39 GNOMAD ss4134946562 Apr 26, 2021 (155)
40 TOPMED ss4689833274 Apr 26, 2021 (155)
41 TOMMO_GENOMICS ss5175603104 Apr 26, 2021 (155)
42 TOMMO_GENOMICS ss5175603105 Apr 26, 2021 (155)
43 TOMMO_GENOMICS ss5175603106 Apr 26, 2021 (155)
44 TOMMO_GENOMICS ss5175603107 Apr 26, 2021 (155)
45 1000G_HIGH_COVERAGE ss5266972978 Oct 17, 2022 (156)
46 1000G_HIGH_COVERAGE ss5266972979 Oct 17, 2022 (156)
47 1000G_HIGH_COVERAGE ss5266972980 Oct 17, 2022 (156)
48 1000G_HIGH_COVERAGE ss5266972981 Oct 17, 2022 (156)
49 HUGCELL_USP ss5464819620 Oct 17, 2022 (156)
50 HUGCELL_USP ss5464819621 Oct 17, 2022 (156)
51 HUGCELL_USP ss5464819622 Oct 17, 2022 (156)
52 HUGCELL_USP ss5464819623 Oct 17, 2022 (156)
53 TOMMO_GENOMICS ss5713102494 Oct 17, 2022 (156)
54 TOMMO_GENOMICS ss5713102495 Oct 17, 2022 (156)
55 TOMMO_GENOMICS ss5713102496 Oct 17, 2022 (156)
56 TOMMO_GENOMICS ss5713102497 Oct 17, 2022 (156)
57 EVA ss5855149265 Oct 17, 2022 (156)
58 1000Genomes NC_000005.9 - 176415132 Oct 12, 2018 (152)
59 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 16828277 (NC_000005.9:176415131:AAA: 785/3854)
Row 16828278 (NC_000005.9:176415132:A: 2595/3854)

- Oct 12, 2018 (152)
60 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 16828277 (NC_000005.9:176415131:AAA: 785/3854)
Row 16828278 (NC_000005.9:176415132:A: 2595/3854)

- Oct 12, 2018 (152)
61 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 213740153 (NC_000005.10:176988130::A 1411/82386)
Row 213740154 (NC_000005.10:176988130::AA 30/82570)
Row 213740155 (NC_000005.10:176988130::AAA 1/82598)...

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

Submission ignored due to conflicting rows:
Row 213740153 (NC_000005.10:176988130::A 1411/82386)
Row 213740154 (NC_000005.10:176988130::AA 30/82570)
Row 213740155 (NC_000005.10:176988130::AAA 1/82598)...

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

Submission ignored due to conflicting rows:
Row 213740153 (NC_000005.10:176988130::A 1411/82386)
Row 213740154 (NC_000005.10:176988130::AA 30/82570)
Row 213740155 (NC_000005.10:176988130::AAA 1/82598)...

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

Submission ignored due to conflicting rows:
Row 213740153 (NC_000005.10:176988130::A 1411/82386)
Row 213740154 (NC_000005.10:176988130::AA 30/82570)
Row 213740155 (NC_000005.10:176988130::AAA 1/82598)...

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

Submission ignored due to conflicting rows:
Row 213740153 (NC_000005.10:176988130::A 1411/82386)
Row 213740154 (NC_000005.10:176988130::AA 30/82570)
Row 213740155 (NC_000005.10:176988130::AAA 1/82598)...

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

Submission ignored due to conflicting rows:
Row 213740153 (NC_000005.10:176988130::A 1411/82386)
Row 213740154 (NC_000005.10:176988130::AA 30/82570)
Row 213740155 (NC_000005.10:176988130::AAA 1/82598)...

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

Submission ignored due to conflicting rows:
Row 213740153 (NC_000005.10:176988130::A 1411/82386)
Row 213740154 (NC_000005.10:176988130::AA 30/82570)
Row 213740155 (NC_000005.10:176988130::AAA 1/82598)...

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

Submission ignored due to conflicting rows:
Row 213740153 (NC_000005.10:176988130::A 1411/82386)
Row 213740154 (NC_000005.10:176988130::AA 30/82570)
Row 213740155 (NC_000005.10:176988130::AAA 1/82598)...

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

Submission ignored due to conflicting rows:
Row 213740153 (NC_000005.10:176988130::A 1411/82386)
Row 213740154 (NC_000005.10:176988130::AA 30/82570)
Row 213740155 (NC_000005.10:176988130::AAA 1/82598)...

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

Submission ignored due to conflicting rows:
Row 213740153 (NC_000005.10:176988130::A 1411/82386)
Row 213740154 (NC_000005.10:176988130::AA 30/82570)
Row 213740155 (NC_000005.10:176988130::AAA 1/82598)...

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

Submission ignored due to conflicting rows:
Row 213740153 (NC_000005.10:176988130::A 1411/82386)
Row 213740154 (NC_000005.10:176988130::AA 30/82570)
Row 213740155 (NC_000005.10:176988130::AAA 1/82598)...

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

Submission ignored due to conflicting rows:
Row 213740153 (NC_000005.10:176988130::A 1411/82386)
Row 213740154 (NC_000005.10:176988130::AA 30/82570)
Row 213740155 (NC_000005.10:176988130::AAA 1/82598)...

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

Submission ignored due to conflicting rows:
Row 213740153 (NC_000005.10:176988130::A 1411/82386)
Row 213740154 (NC_000005.10:176988130::AA 30/82570)
Row 213740155 (NC_000005.10:176988130::AAA 1/82598)...

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

Submission ignored due to conflicting rows:
Row 213740153 (NC_000005.10:176988130::A 1411/82386)
Row 213740154 (NC_000005.10:176988130::AA 30/82570)
Row 213740155 (NC_000005.10:176988130::AAA 1/82598)...

- Apr 26, 2021 (155)
75 8.3KJPN

Submission ignored due to conflicting rows:
Row 33572411 (NC_000005.9:176415131:AA: 6920/16666)
Row 33572412 (NC_000005.9:176415131:A: 100/16666)
Row 33572413 (NC_000005.9:176415131::A 27/16666)...

- Apr 26, 2021 (155)
76 8.3KJPN

Submission ignored due to conflicting rows:
Row 33572411 (NC_000005.9:176415131:AA: 6920/16666)
Row 33572412 (NC_000005.9:176415131:A: 100/16666)
Row 33572413 (NC_000005.9:176415131::A 27/16666)...

- Apr 26, 2021 (155)
77 8.3KJPN

Submission ignored due to conflicting rows:
Row 33572411 (NC_000005.9:176415131:AA: 6920/16666)
Row 33572412 (NC_000005.9:176415131:A: 100/16666)
Row 33572413 (NC_000005.9:176415131::A 27/16666)...

- Apr 26, 2021 (155)
78 8.3KJPN

Submission ignored due to conflicting rows:
Row 33572411 (NC_000005.9:176415131:AA: 6920/16666)
Row 33572412 (NC_000005.9:176415131:A: 100/16666)
Row 33572413 (NC_000005.9:176415131::A 27/16666)...

- Apr 26, 2021 (155)
79 14KJPN

Submission ignored due to conflicting rows:
Row 46939598 (NC_000005.10:176988130:AA: 12183/27972)
Row 46939599 (NC_000005.10:176988130:A: 147/27972)
Row 46939600 (NC_000005.10:176988130:AAA: 12/27972)...

- Oct 17, 2022 (156)
80 14KJPN

Submission ignored due to conflicting rows:
Row 46939598 (NC_000005.10:176988130:AA: 12183/27972)
Row 46939599 (NC_000005.10:176988130:A: 147/27972)
Row 46939600 (NC_000005.10:176988130:AAA: 12/27972)...

- Oct 17, 2022 (156)
81 14KJPN

Submission ignored due to conflicting rows:
Row 46939598 (NC_000005.10:176988130:AA: 12183/27972)
Row 46939599 (NC_000005.10:176988130:A: 147/27972)
Row 46939600 (NC_000005.10:176988130:AAA: 12/27972)...

- Oct 17, 2022 (156)
82 14KJPN

Submission ignored due to conflicting rows:
Row 46939598 (NC_000005.10:176988130:AA: 12183/27972)
Row 46939599 (NC_000005.10:176988130:A: 147/27972)
Row 46939600 (NC_000005.10:176988130:AAA: 12/27972)...

- Oct 17, 2022 (156)
83 TopMed NC_000005.10 - 176988131 Apr 26, 2021 (155)
84 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 16828277 (NC_000005.9:176415131:AAA: 745/3708)
Row 16828278 (NC_000005.9:176415132:A: 2481/3708)

- Oct 12, 2018 (152)
85 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 16828277 (NC_000005.9:176415131:AAA: 745/3708)
Row 16828278 (NC_000005.9:176415132:A: 2481/3708)

- Oct 12, 2018 (152)
86 ALFA NC_000005.10 - 176988131 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)
rs61095941 May 26, 2008 (130)
rs141206150 May 11, 2012 (137)
rs150712085 Sep 17, 2011 (135)
rs397713836 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
527210831, ss4134946562, ss4689833274 NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAA:

NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
2997784047 NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
ss4134946561 NC_000005.10:176988130:AAAAAAAAAAA: NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
2997784047 NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
ss4134946560 NC_000005.10:176988130:AAAAAAAAAA: NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
2997784047 NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
2997784047 NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss4134946559 NC_000005.10:176988130:AAAAAA: NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
2997784047 NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3716337535, ss4134946558 NC_000005.10:176988130:AAAAA: NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4134946557 NC_000005.10:176988130:AAAA: NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3716337534 NC_000005.10:176988131:AAAA: NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss1704989990, ss1704990021, ss5175603107 NC_000005.9:176415131:AAA: NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4134946556, ss5266972979, ss5464819622, ss5713102496, ss5855149265 NC_000005.10:176988130:AAA: NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
2997784047 NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3716337533 NC_000005.10:176988132:AAA: NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss295258410 NC_000005.8:176347737:AA: NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss79947493, ss295258411 NC_000005.8:176347756:AA: NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
30223243, ss1374902262, ss2136302354, ss3022561048, ss3653068168, ss3785336438, ss3790706190, ss3795583373, ss5175603104 NC_000005.9:176415131:AA: NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss1710246592, ss1710246595 NC_000005.9:176415132:AA: NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3066058149, ss3807622589, ss4134946555, ss5266972978, ss5464819621, ss5713102494 NC_000005.10:176988130:AA: NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
2997784047 NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3716337532 NC_000005.10:176988133:AA: NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss98686054 NT_023133.13:21226407:AA: NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss42404619, ss95415421 NT_023133.13:21226423:AA: NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss5175603105 NC_000005.9:176415131:A: NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
NC_000005.9:176415132:A: NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss5266972980, ss5464819620, ss5713102495 NC_000005.10:176988130:A: NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
2997784047 NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3716337531 NC_000005.10:176988134:A: NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3829665470, ss5175603106 NC_000005.9:176415131::A NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4134946550, ss5266972981, ss5464819623, ss5713102497 NC_000005.10:176988130::A NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
2997784047 NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss3716337530 NC_000005.10:176988135::A NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4134946551 NC_000005.10:176988130::AA NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
2997784047 NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4134946552 NC_000005.10:176988130::AAA NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4134946553 NC_000005.10:176988130::AAAA NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4134946554 NC_000005.10:176988130::AAAAA NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
2997784047 NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000005.10:176988130:AAAAAAAAAAA…

NC_000005.10:176988130:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(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 rs35059681

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