Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs3487

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:156683695 (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
A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.170649 (45169/264690, TOPMED)
G=0.214688 (44121/205512, ALFA)
G=0.177836 (24928/140174, GnomAD) (+ 20 more)
G=0.45952 (12985/28258, 14KJPN)
G=0.45912 (7694/16758, 8.3KJPN)
G=0.1864 (1194/6404, 1000G_30x)
G=0.1985 (994/5008, 1000G)
G=0.2357 (1056/4480, Estonian)
G=0.2353 (907/3854, ALSPAC)
G=0.2241 (831/3708, TWINSUK)
G=0.4259 (1248/2930, KOREAN)
G=0.2133 (444/2082, HGDP_Stanford)
G=0.2042 (386/1890, HapMap)
G=0.4252 (779/1832, Korea1K)
G=0.2764 (314/1136, Daghestan)
G=0.236 (236/998, GoNL)
G=0.217 (130/600, NorthernSweden)
G=0.194 (42/216, Qatari)
G=0.273 (59/216, Vietnamese)
A=0.451 (93/206, SGDP_PRJ)
G=0.15 (6/40, GENOME_DK)
G=0.12 (4/34, Ancient Sardinia)
A=0.42 (10/24, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
LMBR1 : Non Coding Transcript 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 205512 A=0.785312 G=0.214688 0.618796 0.048172 0.333032 9
European Sub 175536 A=0.774229 G=0.225771 0.600014 0.051556 0.34843 1
African Sub 9724 A=0.9345 G=0.0655 0.873715 0.004731 0.121555 0
African Others Sub 348 A=0.974 G=0.026 0.948276 0.0 0.051724 0
African American Sub 9376 A=0.9330 G=0.0670 0.870947 0.004906 0.124147 0
Asian Sub 704 A=0.591 G=0.409 0.375 0.193182 0.431818 3
East Asian Sub 558 A=0.581 G=0.419 0.365591 0.204301 0.430108 2
Other Asian Sub 146 A=0.630 G=0.370 0.410959 0.150685 0.438356 0
Latin American 1 Sub 844 A=0.829 G=0.171 0.691943 0.033175 0.274882 0
Latin American 2 Sub 6892 A=0.8469 G=0.1531 0.719965 0.026117 0.253918 1
South Asian Sub 5044 A=0.8047 G=0.1953 0.645916 0.036479 0.317605 0
Other Sub 6768 A=0.7960 G=0.2040 0.632683 0.04078 0.326537 0


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=0.829351 G=0.170649
Allele Frequency Aggregator Total Global 205512 A=0.785312 G=0.214688
Allele Frequency Aggregator European Sub 175536 A=0.774229 G=0.225771
Allele Frequency Aggregator African Sub 9724 A=0.9345 G=0.0655
Allele Frequency Aggregator Latin American 2 Sub 6892 A=0.8469 G=0.1531
Allele Frequency Aggregator Other Sub 6768 A=0.7960 G=0.2040
Allele Frequency Aggregator South Asian Sub 5044 A=0.8047 G=0.1953
Allele Frequency Aggregator Latin American 1 Sub 844 A=0.829 G=0.171
Allele Frequency Aggregator Asian Sub 704 A=0.591 G=0.409
gnomAD - Genomes Global Study-wide 140174 A=0.822164 G=0.177836
gnomAD - Genomes European Sub 75898 A=0.76246 G=0.23754
gnomAD - Genomes African Sub 42044 A=0.93745 G=0.06255
gnomAD - Genomes American Sub 13646 A=0.85637 G=0.14363
gnomAD - Genomes Ashkenazi Jewish Sub 3316 A=0.7964 G=0.2036
gnomAD - Genomes East Asian Sub 3122 A=0.5974 G=0.4026
gnomAD - Genomes Other Sub 2148 A=0.8245 G=0.1755
14KJPN JAPANESE Study-wide 28258 A=0.54048 G=0.45952
8.3KJPN JAPANESE Study-wide 16758 A=0.54088 G=0.45912
1000Genomes_30x Global Study-wide 6404 A=0.8136 G=0.1864
1000Genomes_30x African Sub 1786 A=0.9798 G=0.0202
1000Genomes_30x Europe Sub 1266 A=0.7733 G=0.2267
1000Genomes_30x South Asian Sub 1202 A=0.8003 G=0.1997
1000Genomes_30x East Asian Sub 1170 A=0.5744 G=0.4256
1000Genomes_30x American Sub 980 A=0.864 G=0.136
1000Genomes Global Study-wide 5008 A=0.8015 G=0.1985
1000Genomes African Sub 1322 A=0.9766 G=0.0234
1000Genomes East Asian Sub 1008 A=0.5734 G=0.4266
1000Genomes Europe Sub 1006 A=0.7714 G=0.2286
1000Genomes South Asian Sub 978 A=0.793 G=0.207
1000Genomes American Sub 694 A=0.854 G=0.146
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.7643 G=0.2357
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.7647 G=0.2353
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.7759 G=0.2241
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.5741 G=0.4259, T=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2082 A=0.7867 G=0.2133
HGDP-CEPH-db Supplement 1 Est_Asia Sub 468 A=0.575 G=0.425
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.802 G=0.198
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.840 G=0.160
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.778 G=0.222
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.967 G=0.033
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.907 G=0.093
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.89 G=0.11
HapMap Global Study-wide 1890 A=0.7958 G=0.2042
HapMap American Sub 768 A=0.759 G=0.241
HapMap African Sub 692 A=0.918 G=0.082
HapMap Asian Sub 254 A=0.563 G=0.437
HapMap Europe Sub 176 A=0.812 G=0.188
Korean Genome Project KOREAN Study-wide 1832 A=0.5748 G=0.4252
Genome-wide autozygosity in Daghestan Global Study-wide 1136 A=0.7236 G=0.2764
Genome-wide autozygosity in Daghestan Daghestan Sub 628 A=0.667 G=0.333
Genome-wide autozygosity in Daghestan Near_East Sub 144 A=0.847 G=0.153
Genome-wide autozygosity in Daghestan Central Asia Sub 122 A=0.689 G=0.311
Genome-wide autozygosity in Daghestan Europe Sub 108 A=0.815 G=0.185
Genome-wide autozygosity in Daghestan South Asian Sub 98 A=0.83 G=0.17
Genome-wide autozygosity in Daghestan Caucasus Sub 36 A=0.78 G=0.22
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.764 G=0.236
Northern Sweden ACPOP Study-wide 600 A=0.783 G=0.217
Qatari Global Study-wide 216 A=0.806 G=0.194
A Vietnamese Genetic Variation Database Global Study-wide 216 A=0.727 G=0.273
SGDP_PRJ Global Study-wide 206 A=0.451 G=0.549
The Danish reference pan genome Danish Study-wide 40 A=0.85 G=0.15
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 34 A=0.88 G=0.12
Siberian Global Study-wide 24 A=0.42 G=0.58
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 7 NC_000007.14:g.156683695A>G
GRCh38.p14 chr 7 NC_000007.14:g.156683695A>T
GRCh37.p13 chr 7 NC_000007.13:g.156476389A>G
GRCh37.p13 chr 7 NC_000007.13:g.156476389A>T
LMBR1 RefSeqGene NG_009240.2:g.214514T>C
LMBR1 RefSeqGene NG_009240.2:g.214514T>A
Gene: LMBR1, limb development membrane protein 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LMBR1 transcript variant 2 NM_022458.4:c.*383= N/A 3 Prime UTR Variant
LMBR1 transcript variant 13 NM_001363412.2:c.*383= N/A 3 Prime UTR Variant
LMBR1 transcript variant 5 NM_001350956.2:c.*383= N/A 3 Prime UTR Variant
LMBR1 transcript variant 10 NM_001363409.2:c.*383= N/A 3 Prime UTR Variant
LMBR1 transcript variant 4 NM_001350955.2:c.*383= N/A 3 Prime UTR Variant
LMBR1 transcript variant 14 NM_001363413.2:c.*383= N/A 3 Prime UTR Variant
LMBR1 transcript variant 11 NM_001363410.2:c.*383= N/A 3 Prime UTR Variant
LMBR1 transcript variant 6 NM_001350957.2:c.*383= N/A 3 Prime UTR Variant
LMBR1 transcript variant 7 NM_001350958.2:c.*383= N/A 3 Prime UTR Variant
LMBR1 transcript variant 1 NM_001350953.2:c.*383= N/A 3 Prime UTR Variant
LMBR1 transcript variant 12 NM_001363411.2:c.*383= N/A 3 Prime UTR Variant
LMBR1 transcript variant 3 NM_001350954.2:c.*383= N/A 3 Prime UTR Variant
LMBR1 transcript variant 8 NR_146958.2:n.1891T>C N/A Non Coding Transcript Variant
LMBR1 transcript variant 8 NR_146958.2:n.1891T>A N/A Non Coding Transcript Variant
LMBR1 transcript variant 9 NR_146959.2:n.2046T>C N/A Non Coding Transcript Variant
LMBR1 transcript variant 9 NR_146959.2:n.2046T>A N/A Non Coding Transcript Variant
LMBR1 transcript variant X5 XM_047420703.1:c.*383= N/A 3 Prime UTR Variant
LMBR1 transcript variant X13 XM_017012515.3:c.*459= N/A 3 Prime UTR Variant
LMBR1 transcript variant X14 XM_005249558.3:c.*459= N/A 3 Prime UTR Variant
LMBR1 transcript variant X6 XM_047420704.1:c. N/A Genic Downstream Transcript Variant
LMBR1 transcript variant X8 XM_047420705.1:c. N/A Genic Downstream Transcript Variant
LMBR1 transcript variant X9 XM_047420706.1:c. N/A Genic Downstream Transcript Variant
LMBR1 transcript variant X1 XR_007060130.1:n.2169T>C N/A Non Coding Transcript Variant
LMBR1 transcript variant X1 XR_007060130.1:n.2169T>A N/A Non Coding Transcript Variant
LMBR1 transcript variant X10 XR_007060131.1:n.2169T>C N/A Non Coding Transcript Variant
LMBR1 transcript variant X10 XR_007060131.1:n.2169T>A N/A Non Coding Transcript Variant
LMBR1 transcript variant X2 XR_007060132.1:n.2169T>C N/A Non Coding Transcript Variant
LMBR1 transcript variant X2 XR_007060132.1:n.2169T>A N/A Non Coding Transcript Variant
LMBR1 transcript variant X3 XR_007060133.1:n.2046T>C N/A Non Coding Transcript Variant
LMBR1 transcript variant X3 XR_007060133.1:n.2046T>A N/A Non Coding Transcript Variant
LMBR1 transcript variant X4 XR_007060134.1:n.2046T>C N/A Non Coding Transcript Variant
LMBR1 transcript variant X4 XR_007060134.1:n.2046T>A N/A Non Coding Transcript Variant
LMBR1 transcript variant X11 XR_007060135.1:n.2046T>C N/A Non Coding Transcript Variant
LMBR1 transcript variant X11 XR_007060135.1:n.2046T>A N/A Non Coding Transcript Variant
LMBR1 transcript variant X12 XR_007060136.1:n.1884T>C N/A Non Coding Transcript Variant
LMBR1 transcript variant X12 XR_007060136.1:n.1884T>A N/A Non Coding Transcript Variant
LMBR1 transcript variant X7 XR_007060137.1:n.1564T>C N/A Non Coding Transcript Variant
LMBR1 transcript variant X7 XR_007060137.1:n.1564T>A N/A Non Coding 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.

Allele: G (allele ID: 310399 )
ClinVar Accession Disease Names Clinical Significance
RCV000272143.3 Polydactyly of a triphalangeal thumb Benign
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= G T
GRCh38.p14 chr 7 NC_000007.14:g.156683695= NC_000007.14:g.156683695A>G NC_000007.14:g.156683695A>T
GRCh37.p13 chr 7 NC_000007.13:g.156476389= NC_000007.13:g.156476389A>G NC_000007.13:g.156476389A>T
LMBR1 RefSeqGene NG_009240.2:g.214514= NG_009240.2:g.214514T>C NG_009240.2:g.214514T>A
LMBR1 transcript variant 2 NM_022458.4:c.*383= NM_022458.4:c.*383T>C NM_022458.4:c.*383T>A
LMBR1 transcript variant 2 NM_022458.3:c.*383= NM_022458.3:c.*383T>C NM_022458.3:c.*383T>A
LMBR1 transcript variant 14 NM_001363413.2:c.*383= NM_001363413.2:c.*383T>C NM_001363413.2:c.*383T>A
LMBR1 transcript variant 14 NM_001363413.1:c.*383= NM_001363413.1:c.*383T>C NM_001363413.1:c.*383T>A
LMBR1 transcript variant 4 NM_001350955.2:c.*383= NM_001350955.2:c.*383T>C NM_001350955.2:c.*383T>A
LMBR1 transcript variant 4 NM_001350955.1:c.*383= NM_001350955.1:c.*383T>C NM_001350955.1:c.*383T>A
LMBR1 transcript variant 1 NM_001350953.2:c.*383= NM_001350953.2:c.*383T>C NM_001350953.2:c.*383T>A
LMBR1 transcript variant 1 NM_001350953.1:c.*383= NM_001350953.1:c.*383T>C NM_001350953.1:c.*383T>A
LMBR1 transcript variant 12 NM_001363411.2:c.*383= NM_001363411.2:c.*383T>C NM_001363411.2:c.*383T>A
LMBR1 transcript variant 12 NM_001363411.1:c.*383= NM_001363411.1:c.*383T>C NM_001363411.1:c.*383T>A
LMBR1 transcript variant 5 NM_001350956.2:c.*383= NM_001350956.2:c.*383T>C NM_001350956.2:c.*383T>A
LMBR1 transcript variant 5 NM_001350956.1:c.*383= NM_001350956.1:c.*383T>C NM_001350956.1:c.*383T>A
LMBR1 transcript variant 10 NM_001363409.2:c.*383= NM_001363409.2:c.*383T>C NM_001363409.2:c.*383T>A
LMBR1 transcript variant 10 NM_001363409.1:c.*383= NM_001363409.1:c.*383T>C NM_001363409.1:c.*383T>A
LMBR1 transcript variant 6 NM_001350957.2:c.*383= NM_001350957.2:c.*383T>C NM_001350957.2:c.*383T>A
LMBR1 transcript variant 6 NM_001350957.1:c.*383= NM_001350957.1:c.*383T>C NM_001350957.1:c.*383T>A
LMBR1 transcript variant 7 NM_001350958.2:c.*383= NM_001350958.2:c.*383T>C NM_001350958.2:c.*383T>A
LMBR1 transcript variant 7 NM_001350958.1:c.*383= NM_001350958.1:c.*383T>C NM_001350958.1:c.*383T>A
LMBR1 transcript variant 8 NR_146958.2:n.1891= NR_146958.2:n.1891T>C NR_146958.2:n.1891T>A
LMBR1 transcript variant 8 NR_146958.1:n.1916= NR_146958.1:n.1916T>C NR_146958.1:n.1916T>A
LMBR1 transcript variant 11 NM_001363410.2:c.*383= NM_001363410.2:c.*383T>C NM_001363410.2:c.*383T>A
LMBR1 transcript variant 11 NM_001363410.1:c.*383= NM_001363410.1:c.*383T>C NM_001363410.1:c.*383T>A
LMBR1 transcript variant 13 NM_001363412.2:c.*383= NM_001363412.2:c.*383T>C NM_001363412.2:c.*383T>A
LMBR1 transcript variant 13 NM_001363412.1:c.*383= NM_001363412.1:c.*383T>C NM_001363412.1:c.*383T>A
LMBR1 transcript variant 3 NM_001350954.2:c.*383= NM_001350954.2:c.*383T>C NM_001350954.2:c.*383T>A
LMBR1 transcript variant 3 NM_001350954.1:c.*383= NM_001350954.1:c.*383T>C NM_001350954.1:c.*383T>A
LMBR1 transcript variant 9 NR_146959.2:n.2046= NR_146959.2:n.2046T>C NR_146959.2:n.2046T>A
LMBR1 transcript variant 9 NR_146959.1:n.2071= NR_146959.1:n.2071T>C NR_146959.1:n.2071T>A
LMBR1 transcript variant X13 XM_017012515.3:c.*459= XM_017012515.3:c.*459T>C XM_017012515.3:c.*459T>A
LMBR1 transcript variant X14 XM_017012515.1:c.*459= XM_017012515.1:c.*459T>C XM_017012515.1:c.*459T>A
LMBR1 transcript variant X14 XM_005249558.3:c.*459= XM_005249558.3:c.*459T>C XM_005249558.3:c.*459T>A
LMBR1 transcript variant X14 XM_005249558.2:c.*459= XM_005249558.2:c.*459T>C XM_005249558.2:c.*459T>A
LMBR1 transcript variant X5 XM_005249558.1:c.*459= XM_005249558.1:c.*459T>C XM_005249558.1:c.*459T>A
LMBR1 transcript variant X5 XM_047420703.1:c.*383= XM_047420703.1:c.*383T>C XM_047420703.1:c.*383T>A
LMBR1 transcript variant X12 XR_007060136.1:n.1884= XR_007060136.1:n.1884T>C XR_007060136.1:n.1884T>A
LMBR1 transcript variant X3 XR_007060133.1:n.2046= XR_007060133.1:n.2046T>C XR_007060133.1:n.2046T>A
LMBR1 transcript variant X2 XR_007060132.1:n.2169= XR_007060132.1:n.2169T>C XR_007060132.1:n.2169T>A
LMBR1 transcript variant X1 XR_007060130.1:n.2169= XR_007060130.1:n.2169T>C XR_007060130.1:n.2169T>A
LMBR1 transcript variant X4 XR_007060134.1:n.2046= XR_007060134.1:n.2046T>C XR_007060134.1:n.2046T>A
LMBR1 transcript variant X10 XR_007060131.1:n.2169= XR_007060131.1:n.2169T>C XR_007060131.1:n.2169T>A
LMBR1 transcript variant X11 XR_007060135.1:n.2046= XR_007060135.1:n.2046T>C XR_007060135.1:n.2046T>A
LMBR1 transcript variant X7 XR_007060137.1:n.1564= XR_007060137.1:n.1564T>C XR_007060137.1:n.1564T>A
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#.

116 SubSNP, 23 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 WIAF ss3522 Sep 19, 2000 (36)
2 YUSUKE ss4921185 Aug 28, 2002 (108)
3 CSHL-HAPMAP ss17155259 Feb 27, 2004 (120)
4 SSAHASNP ss22549299 Apr 05, 2004 (121)
5 PERLEGEN ss24024273 Sep 21, 2004 (123)
6 KYUGEN ss35077334 May 24, 2005 (125)
7 ABI ss44829461 Mar 13, 2006 (126)
8 ILLUMINA ss66746195 Nov 29, 2006 (127)
9 ILLUMINA ss67295578 Nov 29, 2006 (127)
10 ILLUMINA ss67699804 Nov 29, 2006 (127)
11 ILLUMINA ss70774190 May 25, 2008 (130)
12 ILLUMINA ss71349960 May 16, 2007 (127)
13 ILLUMINA ss75713346 Dec 06, 2007 (129)
14 ILLUMINA ss79161939 Dec 15, 2007 (130)
15 KRIBB_YJKIM ss83345952 Dec 15, 2007 (130)
16 BGI ss105585897 Feb 05, 2009 (130)
17 1000GENOMES ss112679329 Jan 25, 2009 (130)
18 ILLUMINA ss122191570 Dec 01, 2009 (131)
19 ENSEMBL ss144092305 Dec 01, 2009 (131)
20 ILLUMINA ss154260345 Dec 01, 2009 (131)
21 GMI ss155769621 Dec 01, 2009 (131)
22 ILLUMINA ss159436915 Dec 01, 2009 (131)
23 ILLUMINA ss160624050 Dec 01, 2009 (131)
24 COMPLETE_GENOMICS ss167318055 Jul 04, 2010 (132)
25 ILLUMINA ss171588396 Jul 04, 2010 (132)
26 ILLUMINA ss173594130 Jul 04, 2010 (132)
27 1000GENOMES ss234245512 Jul 15, 2010 (132)
28 1000GENOMES ss241140907 Jul 15, 2010 (132)
29 GMI ss279611037 May 04, 2012 (137)
30 PJP ss294012886 May 09, 2011 (134)
31 ILLUMINA ss480786250 May 04, 2012 (137)
32 ILLUMINA ss480801976 May 04, 2012 (137)
33 ILLUMINA ss481710938 Sep 08, 2015 (146)
34 ILLUMINA ss485187891 May 04, 2012 (137)
35 ILLUMINA ss537176438 Sep 08, 2015 (146)
36 TISHKOFF ss560431883 Apr 25, 2013 (138)
37 SSMP ss654847621 Apr 25, 2013 (138)
38 ILLUMINA ss778519318 Aug 21, 2014 (142)
39 ILLUMINA ss783040024 Aug 21, 2014 (142)
40 ILLUMINA ss783999365 Aug 21, 2014 (142)
41 ILLUMINA ss825492457 Apr 01, 2015 (144)
42 ILLUMINA ss832297753 Apr 01, 2015 (144)
43 ILLUMINA ss832948504 Aug 21, 2014 (142)
44 ILLUMINA ss833539334 Aug 21, 2014 (142)
45 ILLUMINA ss833975696 Aug 21, 2014 (142)
46 EVA-GONL ss985008482 Aug 21, 2014 (142)
47 JMKIDD_LAB ss1075136362 Aug 21, 2014 (142)
48 1000GENOMES ss1327923313 Aug 21, 2014 (142)
49 HAMMER_LAB ss1397511392 Sep 08, 2015 (146)
50 EVA_GENOME_DK ss1582482851 Apr 01, 2015 (144)
51 EVA_DECODE ss1594598259 Apr 01, 2015 (144)
52 EVA_UK10K_ALSPAC ss1619625636 Apr 01, 2015 (144)
53 EVA_UK10K_TWINSUK ss1662619669 Apr 01, 2015 (144)
54 EVA_SVP ss1713001840 Apr 01, 2015 (144)
55 ILLUMINA ss1752674460 Sep 08, 2015 (146)
56 HAMMER_LAB ss1805317002 Sep 08, 2015 (146)
57 WEILL_CORNELL_DGM ss1928275728 Feb 12, 2016 (147)
58 JJLAB ss2024826629 Sep 14, 2016 (149)
59 USC_VALOUEV ss2153053352 Dec 20, 2016 (150)
60 HUMAN_LONGEVITY ss2299402938 Dec 20, 2016 (150)
61 SYSTEMSBIOZJU ss2626900287 Nov 08, 2017 (151)
62 ILLUMINA ss2634686015 Nov 08, 2017 (151)
63 ILLUMINA ss2635178330 Nov 08, 2017 (151)
64 GRF ss2708786328 Nov 08, 2017 (151)
65 GNOMAD ss2861351174 Nov 08, 2017 (151)
66 SWEGEN ss3002376810 Nov 08, 2017 (151)
67 BIOINF_KMB_FNS_UNIBA ss3026202921 Nov 08, 2017 (151)
68 CSHL ss3347945207 Nov 08, 2017 (151)
69 ILLUMINA ss3629959086 Oct 12, 2018 (152)
70 ILLUMINA ss3632588890 Oct 12, 2018 (152)
71 ILLUMINA ss3633484640 Oct 12, 2018 (152)
72 ILLUMINA ss3634210640 Oct 12, 2018 (152)
73 ILLUMINA ss3635151121 Oct 12, 2018 (152)
74 ILLUMINA ss3635889865 Oct 12, 2018 (152)
75 ILLUMINA ss3636886234 Oct 12, 2018 (152)
76 ILLUMINA ss3637642948 Oct 12, 2018 (152)
77 ILLUMINA ss3638735008 Oct 12, 2018 (152)
78 ILLUMINA ss3639368463 Oct 12, 2018 (152)
79 ILLUMINA ss3639713428 Oct 12, 2018 (152)
80 ILLUMINA ss3640858411 Oct 12, 2018 (152)
81 ILLUMINA ss3643667856 Oct 12, 2018 (152)
82 OMUKHERJEE_ADBS ss3646367094 Oct 12, 2018 (152)
83 URBANLAB ss3648801947 Oct 12, 2018 (152)
84 EGCUT_WGS ss3670104408 Jul 13, 2019 (153)
85 EVA_DECODE ss3721087248 Jul 13, 2019 (153)
86 ACPOP ss3735245441 Jul 13, 2019 (153)
87 ILLUMINA ss3745451052 Jul 13, 2019 (153)
88 EVA ss3767402248 Jul 13, 2019 (153)
89 ILLUMINA ss3772943715 Jul 13, 2019 (153)
90 KHV_HUMAN_GENOMES ss3810572681 Jul 13, 2019 (153)
91 EVA ss3825733732 Apr 26, 2020 (154)
92 EVA ss3830921695 Apr 26, 2020 (154)
93 HGDP ss3847897332 Apr 26, 2020 (154)
94 SGDP_PRJ ss3868831551 Apr 26, 2020 (154)
95 KRGDB ss3916234879 Apr 26, 2020 (154)
96 KOGIC ss3962973947 Apr 26, 2020 (154)
97 FSA-LAB ss3984388379 Apr 26, 2021 (155)
98 EVA ss3985333514 Apr 26, 2021 (155)
99 EVA ss4017369158 Apr 26, 2021 (155)
100 TOPMED ss4770437890 Apr 26, 2021 (155)
101 TOMMO_GENOMICS ss5186499164 Apr 26, 2021 (155)
102 1000G_HIGH_COVERAGE ss5275454480 Oct 16, 2022 (156)
103 EVA ss5315294384 Oct 16, 2022 (156)
104 HUGCELL_USP ss5472240897 Oct 16, 2022 (156)
105 EVA ss5509194518 Oct 16, 2022 (156)
106 1000G_HIGH_COVERAGE ss5564955090 Oct 16, 2022 (156)
107 SANFORD_IMAGENETICS ss5644397657 Oct 16, 2022 (156)
108 TOMMO_GENOMICS ss5727783416 Oct 16, 2022 (156)
109 EVA ss5799742536 Oct 16, 2022 (156)
110 EVA ss5800058889 Oct 16, 2022 (156)
111 YY_MCH ss5809277102 Oct 16, 2022 (156)
112 EVA ss5823803918 Oct 16, 2022 (156)
113 EVA ss5856177994 Oct 16, 2022 (156)
114 EVA ss5861668035 Oct 16, 2022 (156)
115 EVA ss5973595269 Oct 16, 2022 (156)
116 EVA ss5980475917 Oct 16, 2022 (156)
117 1000Genomes NC_000007.13 - 156476389 Oct 12, 2018 (152)
118 1000Genomes_30x NC_000007.14 - 156683695 Oct 16, 2022 (156)
119 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 156476389 Oct 12, 2018 (152)
120 Genome-wide autozygosity in Daghestan NC_000007.12 - 156169150 Apr 26, 2020 (154)
121 Genetic variation in the Estonian population NC_000007.13 - 156476389 Oct 12, 2018 (152)
122 The Danish reference pan genome NC_000007.13 - 156476389 Apr 26, 2020 (154)
123 gnomAD - Genomes NC_000007.14 - 156683695 Apr 26, 2021 (155)
124 Genome of the Netherlands Release 5 NC_000007.13 - 156476389 Apr 26, 2020 (154)
125 HGDP-CEPH-db Supplement 1 NC_000007.12 - 156169150 Apr 26, 2020 (154)
126 HapMap NC_000007.14 - 156683695 Apr 26, 2020 (154)
127 KOREAN population from KRGDB NC_000007.13 - 156476389 Apr 26, 2020 (154)
128 Korean Genome Project NC_000007.14 - 156683695 Apr 26, 2020 (154)
129 Northern Sweden NC_000007.13 - 156476389 Jul 13, 2019 (153)
130 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000007.13 - 156476389 Apr 26, 2021 (155)
131 Qatari NC_000007.13 - 156476389 Apr 26, 2020 (154)
132 SGDP_PRJ NC_000007.13 - 156476389 Apr 26, 2020 (154)
133 Siberian NC_000007.13 - 156476389 Apr 26, 2020 (154)
134 8.3KJPN NC_000007.13 - 156476389 Apr 26, 2021 (155)
135 14KJPN NC_000007.14 - 156683695 Oct 16, 2022 (156)
136 TopMed NC_000007.14 - 156683695 Apr 26, 2021 (155)
137 UK 10K study - Twins NC_000007.13 - 156476389 Oct 12, 2018 (152)
138 A Vietnamese Genetic Variation Database NC_000007.13 - 156476389 Jul 13, 2019 (153)
139 ALFA NC_000007.14 - 156683695 Apr 26, 2021 (155)
140 ClinVar RCV000272143.3 Oct 16, 2022 (156)
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)
rs3735187 Oct 08, 2002 (108)
rs59884566 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3639368463, ss3639713428 NC_000007.11:155975864:A:G NC_000007.14:156683694:A:G (self)
485358, 575224, ss112679329, ss160624050, ss167318055, ss279611037, ss294012886, ss480786250, ss825492457, ss1397511392, ss1594598259, ss1713001840, ss2635178330, ss3643667856, ss3847897332 NC_000007.12:156169149:A:G NC_000007.14:156683694:A:G (self)
39995888, 22252884, 15842656, 8647789, 9931762, 23412273, 8530306, 559441, 10317658, 20848531, 5569706, 44468471, 22252884, 4953363, ss234245512, ss241140907, ss480801976, ss481710938, ss485187891, ss537176438, ss560431883, ss654847621, ss778519318, ss783040024, ss783999365, ss832297753, ss832948504, ss833539334, ss833975696, ss985008482, ss1075136362, ss1327923313, ss1582482851, ss1619625636, ss1662619669, ss1752674460, ss1805317002, ss1928275728, ss2024826629, ss2153053352, ss2626900287, ss2634686015, ss2708786328, ss2861351174, ss3002376810, ss3347945207, ss3629959086, ss3632588890, ss3633484640, ss3634210640, ss3635151121, ss3635889865, ss3636886234, ss3637642948, ss3638735008, ss3640858411, ss3646367094, ss3670104408, ss3735245441, ss3745451052, ss3767402248, ss3772943715, ss3825733732, ss3830921695, ss3868831551, ss3916234879, ss3984388379, ss3985333514, ss4017369158, ss5186499164, ss5315294384, ss5509194518, ss5644397657, ss5799742536, ss5800058889, ss5823803918, ss5973595269, ss5980475917 NC_000007.13:156476388:A:G NC_000007.14:156683694:A:G (self)
RCV000272143.3, 52481025, 282344262, 3531853, 19351948, 61620520, 607815449, 3443576797, ss2299402938, ss3026202921, ss3648801947, ss3721087248, ss3810572681, ss3962973947, ss4770437890, ss5275454480, ss5472240897, ss5564955090, ss5727783416, ss5809277102, ss5856177994, ss5861668035 NC_000007.14:156683694:A:G NC_000007.14:156683694:A:G (self)
ss17155259, ss22549299 NT_007741.12:1314537:A:G NC_000007.14:156683694:A:G (self)
ss3522, ss4921185, ss24024273, ss35077334, ss44829461, ss66746195, ss67295578, ss67699804, ss70774190, ss71349960, ss75713346, ss79161939, ss83345952, ss105585897, ss122191570, ss144092305, ss154260345, ss155769621, ss159436915, ss171588396, ss173594130 NT_007741.14:2105754:A:G NC_000007.14:156683694:A:G (self)
23412273, ss3916234879 NC_000007.13:156476388:A:T NC_000007.14:156683694:A:T (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 rs3487

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.post825+45319f0