Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs4508132

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:85696 (GRCh38.p13) 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
T>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.227833 (60305/264690, TOPMED)
T=0.208821 (29260/140120, GnomAD)
T=0.19733 (10165/51512, ALFA) (+ 14 more)
C=0.41116 (6891/16760, 8.3KJPN)
T=0.3095 (1550/5008, 1000G)
T=0.1710 (659/3854, ALSPAC)
T=0.1812 (672/3708, TWINSUK)
C=0.4392 (1285/2926, KOREAN)
T=0.3204 (605/1888, HapMap)
T=0.153 (153/998, GoNL)
T=0.208 (125/600, NorthernSweden)
T=0.257 (137/534, MGP)
T=0.224 (107/478, SGDP_PRJ)
T=0.139 (30/216, Qatari)
T=0.430 (92/214, Vietnamese)
T=0.26 (12/46, Siberian)
T=0.17 (7/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 10 NC_000010.11:g.85696T>A
GRCh38.p13 chr 10 NC_000010.11:g.85696T>C
GRCh37.p13 chr 10 NC_000010.10:g.131636T>A
GRCh37.p13 chr 10 NC_000010.10:g.131636T>C
IL9RP2 pseudogene NG_009864.2:g.650A>T
IL9RP2 pseudogene NG_009864.2:g.650A>G
GRCh37.p13 chr 10 fix patch HG905_PATCH NW_003571043.1:g.75696T>A
GRCh37.p13 chr 10 fix patch HG905_PATCH NW_003571043.1:g.75696T>C
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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 51512 T=0.19733 C=0.80267
European Sub 37582 T=0.16370 C=0.83630
African Sub 4750 T=0.2453 C=0.7547
African Others Sub 154 T=0.286 C=0.714
African American Sub 4596 T=0.2439 C=0.7561
Asian Sub 440 T=0.550 C=0.450
East Asian Sub 376 T=0.574 C=0.426
Other Asian Sub 64 T=0.41 C=0.59
Latin American 1 Sub 276 T=0.163 C=0.837
Latin American 2 Sub 4906 T=0.3907 C=0.6093
South Asian Sub 132 T=0.318 C=0.682
Other Sub 3426 T=0.1757 C=0.8243


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 T=0.227833 C=0.772167
gnomAD - Genomes Global Study-wide 140120 T=0.208821 C=0.791179
gnomAD - Genomes European Sub 75906 T=0.16818 C=0.83182
gnomAD - Genomes African Sub 41988 T=0.24300 C=0.75700
gnomAD - Genomes American Sub 13634 T=0.27644 C=0.72356
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.1634 C=0.8366
gnomAD - Genomes East Asian Sub 3118 T=0.4949 C=0.5051
gnomAD - Genomes Other Sub 2150 T=0.2028 C=0.7972
8.3KJPN JAPANESE Study-wide 16760 T=0.58884 C=0.41116
1000Genomes Global Study-wide 5008 T=0.3095 C=0.6905
1000Genomes African Sub 1322 T=0.2466 C=0.7534
1000Genomes East Asian Sub 1008 T=0.5079 C=0.4921
1000Genomes Europe Sub 1006 T=0.1541 C=0.8459
1000Genomes South Asian Sub 978 T=0.354 C=0.646
1000Genomes American Sub 694 T=0.304 C=0.696
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.1710 C=0.8290
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.1812 C=0.8188
KOREAN population from KRGDB KOREAN Study-wide 2926 T=0.5608 A=0.0000, C=0.4392
HapMap Global Study-wide 1888 T=0.3204 C=0.6796
HapMap American Sub 770 T=0.314 C=0.686
HapMap African Sub 688 T=0.263 C=0.737
HapMap Asian Sub 254 T=0.594 C=0.406
HapMap Europe Sub 176 T=0.176 C=0.824
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.153 C=0.847
Northern Sweden ACPOP Study-wide 600 T=0.208 C=0.792
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.257 C=0.743
SGDP_PRJ Global Study-wide 478 T=0.224 C=0.776
Qatari Global Study-wide 216 T=0.139 C=0.861
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.430 C=0.570
Siberian Global Study-wide 46 T=0.26 C=0.74
The Danish reference pan genome Danish Study-wide 40 T=0.17 C=0.82
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 T= A C
GRCh38.p13 chr 10 NC_000010.11:g.85696= NC_000010.11:g.85696T>A NC_000010.11:g.85696T>C
GRCh37.p13 chr 10 NC_000010.10:g.131636= NC_000010.10:g.131636T>A NC_000010.10:g.131636T>C
IL9RP2 pseudogene NG_009864.2:g.650= NG_009864.2:g.650A>T NG_009864.2:g.650A>G
GRCh37.p13 chr 10 fix patch HG905_PATCH NW_003571043.1:g.75696= NW_003571043.1:g.75696T>A NW_003571043.1:g.75696T>C
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#.

87 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss6073145 Feb 20, 2003 (111)
2 WI_SSAHASNP ss12094926 Jul 11, 2003 (116)
3 SC_SNP ss12973129 Dec 05, 2003 (119)
4 SC_SNP ss15595249 Feb 27, 2004 (120)
5 CSHL-HAPMAP ss16474129 Feb 27, 2004 (120)
6 PERLEGEN ss23881185 Sep 20, 2004 (123)
7 ABI ss39776843 Mar 13, 2006 (126)
8 ILLUMINA ss75295836 Dec 06, 2007 (129)
9 HGSV ss81101685 Dec 15, 2007 (130)
10 HGSV ss84131924 Dec 15, 2007 (130)
11 BCMHGSC_JDW ss88057422 Mar 23, 2008 (129)
12 HUMANGENOME_JCVI ss97527216 Feb 06, 2009 (130)
13 BGI ss102844556 Dec 01, 2009 (131)
14 ENSEMBL ss107935993 Feb 06, 2009 (130)
15 1000GENOMES ss109145753 Jan 23, 2009 (130)
16 1000GENOMES ss115221502 Jan 25, 2009 (130)
17 ILLUMINA-UK ss118963244 Feb 15, 2009 (130)
18 KRIBB_YJKIM ss119478671 Dec 01, 2009 (131)
19 ILLUMINA ss123164805 Dec 01, 2009 (131)
20 ENSEMBL ss138792604 Dec 01, 2009 (131)
21 ILLUMINA ss154298024 Dec 01, 2009 (131)
22 GMI ss158077377 Dec 01, 2009 (131)
23 ILLUMINA ss160683897 Dec 01, 2009 (131)
24 COMPLETE_GENOMICS ss167614007 Jul 04, 2010 (132)
25 COMPLETE_GENOMICS ss168823576 Jul 04, 2010 (132)
26 COMPLETE_GENOMICS ss170210047 Jul 04, 2010 (132)
27 ILLUMINA ss171810926 Jul 04, 2010 (132)
28 ILLUMINA ss173744673 Jul 04, 2010 (132)
29 BUSHMAN ss201023350 Jul 04, 2010 (132)
30 BCM-HGSC-SUB ss207287768 Jul 04, 2010 (132)
31 1000GENOMES ss224512375 Jul 14, 2010 (132)
32 1000GENOMES ss235012269 Jul 15, 2010 (132)
33 1000GENOMES ss241753219 Jul 15, 2010 (132)
34 BL ss253971545 May 09, 2011 (134)
35 GMI ss280440384 May 04, 2012 (137)
36 GMI ss286110759 Apr 25, 2013 (138)
37 PJP ss290815794 May 09, 2011 (134)
38 ILLUMINA ss481949817 Sep 11, 2015 (146)
39 ILLUMINA ss537241660 Sep 11, 2015 (146)
40 TISHKOFF ss561707925 Apr 25, 2013 (138)
41 SSMP ss656208263 Apr 25, 2013 (138)
42 ILLUMINA ss825650707 Aug 21, 2014 (144)
43 EVA-GONL ss987096757 Aug 21, 2014 (142)
44 JMKIDD_LAB ss1076687401 Aug 21, 2014 (142)
45 1000GENOMES ss1335912849 Aug 21, 2014 (142)
46 DDI ss1426189100 Apr 09, 2015 (144)
47 EVA_GENOME_DK ss1574842096 Apr 09, 2015 (144)
48 EVA_DECODE ss1596744249 Apr 01, 2015 (144)
49 EVA_UK10K_ALSPAC ss1623797571 Apr 09, 2015 (144)
50 EVA_UK10K_TWINSUK ss1666791604 Apr 09, 2015 (144)
51 EVA_MGP ss1711245176 Apr 09, 2015 (144)
52 EVA_SVP ss1713149052 Apr 01, 2015 (144)
53 HAMMER_LAB ss1806212552 Sep 11, 2015 (146)
54 WEILL_CORNELL_DGM ss1930414743 Feb 17, 2016 (147)
55 GENOMED ss1967034970 Sep 28, 2016 (149)
56 JJLAB ss2025929562 Sep 28, 2016 (149)
57 USC_VALOUEV ss2154169619 Oct 12, 2018 (152)
58 TOPMED ss2334635218 Oct 12, 2018 (152)
59 SYSTEMSBIOZJU ss2627432622 Oct 12, 2018 (152)
60 GRF ss2698389011 Oct 12, 2018 (152)
61 GNOMAD ss2884519048 Oct 12, 2018 (152)
62 SWEGEN ss3005784400 Oct 12, 2018 (152)
63 BIOINF_KMB_FNS_UNIBA ss3026746708 Nov 08, 2017 (151)
64 TOPMED ss3109332036 Nov 08, 2017 (151)
65 CSHL ss3348911611 Oct 12, 2018 (152)
66 ILLUMINA ss3626364335 Oct 12, 2018 (152)
67 ILLUMINA ss3636064875 Oct 12, 2018 (152)
68 ILLUMINA ss3637828196 Oct 12, 2018 (152)
69 ILLUMINA ss3642833508 Oct 12, 2018 (152)
70 OMUKHERJEE_ADBS ss3646401709 Oct 12, 2018 (152)
71 URBANLAB ss3649265494 Oct 12, 2018 (152)
72 EVA_DECODE ss3689095318 Jul 13, 2019 (153)
73 ACPOP ss3736974302 Jul 13, 2019 (153)
74 EVA ss3747627329 Jul 13, 2019 (153)
75 PACBIO ss3786553490 Jul 13, 2019 (153)
76 PACBIO ss3791748145 Jul 13, 2019 (153)
77 PACBIO ss3796629767 Jul 13, 2019 (153)
78 KHV_HUMAN_GENOMES ss3812993313 Jul 13, 2019 (153)
79 EVA ss3831916733 Apr 26, 2020 (154)
80 EVA ss3839487147 Apr 26, 2020 (154)
81 EVA ss3844952615 Apr 26, 2020 (154)
82 SGDP_PRJ ss3873326425 Apr 26, 2020 (154)
83 KRGDB ss3921253442 Apr 26, 2020 (154)
84 EVA ss4017465202 Apr 26, 2021 (155)
85 GNOMAD ss4211410344 Apr 26, 2021 (155)
86 TOPMED ss4839523448 Apr 26, 2021 (155)
87 TOMMO_GENOMICS ss5195848036 Apr 26, 2021 (155)
88 1000Genomes NC_000010.10 - 131636 Oct 12, 2018 (152)
89 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 131636 Oct 12, 2018 (152)
90 The Danish reference pan genome NC_000010.10 - 131636 Apr 26, 2020 (154)
91 gnomAD - Genomes NC_000010.11 - 85696 Apr 26, 2021 (155)
92 Genome of the Netherlands Release 5 NC_000010.10 - 131636 Apr 26, 2020 (154)
93 HapMap NC_000010.11 - 85696 Apr 26, 2020 (154)
94 KOREAN population from KRGDB NC_000010.10 - 131636 Apr 26, 2020 (154)
95 Medical Genome Project healthy controls from Spanish population NC_000010.10 - 131636 Apr 26, 2020 (154)
96 Northern Sweden NC_000010.10 - 131636 Jul 13, 2019 (153)
97 Qatari NC_000010.10 - 131636 Apr 26, 2020 (154)
98 SGDP_PRJ NC_000010.10 - 131636 Apr 26, 2020 (154)
99 Siberian NC_000010.10 - 131636 Apr 26, 2020 (154)
100 8.3KJPN NC_000010.10 - 131636 Apr 26, 2021 (155)
101 TopMed NC_000010.11 - 85696 Apr 26, 2021 (155)
102 UK 10K study - Twins NC_000010.10 - 131636 Oct 12, 2018 (152)
103 A Vietnamese Genetic Variation Database NC_000010.10 - 131636 Jul 13, 2019 (153)
104 ALFA NC_000010.11 - 85696 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)
rs60443051 May 26, 2008 (130)
rs575586469 Jul 01, 2015 (144)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
28430836, ss3921253442 NC_000010.10:131635:T:A NC_000010.11:85695:T:A (self)
ss81101685, ss84131924 NC_000010.8:121635:T:C NC_000010.11:85695:T:C (self)
ss88057422, ss109145753, ss115221502, ss118963244, ss160683897, ss167614007, ss168823576, ss170210047, ss201023350, ss207287768, ss253971545, ss280440384, ss286110759, ss290815794, ss825650707, ss1596744249, ss1713149052, ss3642833508 NC_000010.9:121635:T:C NC_000010.11:85695:T:C (self)
48246554, 26806349, 1988109, 11953884, 28430836, 360936, 10259167, 12456673, 25343405, 6685973, 53817343, 26806349, 5948670, ss224512375, ss235012269, ss241753219, ss481949817, ss537241660, ss561707925, ss656208263, ss987096757, ss1076687401, ss1335912849, ss1426189100, ss1574842096, ss1623797571, ss1666791604, ss1711245176, ss1806212552, ss1930414743, ss1967034970, ss2025929562, ss2154169619, ss2334635218, ss2627432622, ss2698389011, ss2884519048, ss3005784400, ss3348911611, ss3626364335, ss3636064875, ss3637828196, ss3646401709, ss3736974302, ss3747627329, ss3786553490, ss3791748145, ss3796629767, ss3831916733, ss3839487147, ss3873326425, ss3921253442, ss4017465202, ss5195848036 NC_000010.10:131635:T:C NC_000010.11:85695:T:C (self)
340933523, 317101, 34602215, 55069103, 11440580602, ss3026746708, ss3109332036, ss3649265494, ss3689095318, ss3812993313, ss3844952615, ss4211410344, ss4839523448 NC_000010.11:85695:T:C NC_000010.11:85695:T:C (self)
ss6073145, ss23881185, ss39776843, ss75295836, ss97527216, ss102844556, ss107935993, ss119478671, ss123164805, ss138792604, ss154298024, ss158077377, ss171810926, ss173744673 NT_008705.16:71635:T:C NC_000010.11:85695:T:C (self)
ss12094926, ss12973129 NT_024115.14:71635:T:C NC_000010.11:85695:T:C (self)
ss15595249, ss16474129 NT_077567.3:71635:T:C NC_000010.11:85695:T:C (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 rs4508132

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.post596+ae089ad