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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.

rs10753238

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:30841338 (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
G>A / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.365881 (96845/264690, TOPMED)
G=0.381190 (53343/139938, GnomAD)
G=0.41655 (23804/57146, ALFA) (+ 17 more)
G=0.08932 (1497/16760, 8.3KJPN)
G=0.3077 (1541/5008, 1000G)
G=0.4413 (1977/4480, Estonian)
G=0.4271 (1646/3854, ALSPAC)
G=0.4439 (1646/3708, TWINSUK)
G=0.1061 (311/2930, KOREAN)
G=0.1135 (208/1832, Korea1K)
G=0.4859 (552/1136, Daghestan)
G=0.415 (414/998, GoNL)
G=0.345 (207/600, NorthernSweden)
G=0.225 (110/488, SGDP_PRJ)
G=0.276 (91/330, HapMap)
G=0.440 (95/216, Qatari)
G=0.159 (34/214, Vietnamese)
G=0.46 (36/78, Ancient Sardinia)
G=0.27 (15/56, Siberian)
G=0.47 (19/40, 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 1 NC_000001.11:g.30841338G>A
GRCh38.p13 chr 1 NC_000001.11:g.30841338G>T
GRCh37.p13 chr 1 NC_000001.10:g.31314185G>A
GRCh37.p13 chr 1 NC_000001.10:g.31314185G>T
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 57146 G=0.41655 A=0.58345
European Sub 42800 G=0.44278 A=0.55722
African Sub 7796 G=0.3076 A=0.6924
African Others Sub 274 G=0.281 A=0.719
African American Sub 7522 G=0.3086 A=0.6914
Asian Sub 456 G=0.121 A=0.879
East Asian Sub 388 G=0.119 A=0.881
Other Asian Sub 68 G=0.13 A=0.87
Latin American 1 Sub 536 G=0.422 A=0.578
Latin American 2 Sub 926 G=0.265 A=0.735
South Asian Sub 180 G=0.506 A=0.494
Other Sub 4452 G=0.4128 A=0.5872


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 G=0.365881 A=0.634119
gnomAD - Genomes Global Study-wide 139938 G=0.381190 A=0.618810
gnomAD - Genomes European Sub 75806 G=0.44188 A=0.55812
gnomAD - Genomes African Sub 41908 G=0.30975 A=0.69025
gnomAD - Genomes American Sub 13638 G=0.30444 A=0.69556
gnomAD - Genomes Ashkenazi Jewish Sub 3318 G=0.4554 A=0.5446
gnomAD - Genomes East Asian Sub 3120 G=0.1183 A=0.8817
gnomAD - Genomes Other Sub 2148 G=0.3878 A=0.6122
8.3KJPN JAPANESE Study-wide 16760 G=0.08932 A=0.91068
1000Genomes Global Study-wide 5008 G=0.3077 A=0.6923
1000Genomes African Sub 1322 G=0.2874 A=0.7126
1000Genomes East Asian Sub 1008 G=0.1171 A=0.8829
1000Genomes Europe Sub 1006 G=0.4791 A=0.5209
1000Genomes South Asian Sub 978 G=0.399 A=0.601
1000Genomes American Sub 694 G=0.246 A=0.754
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.4413 A=0.5587
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.4271 A=0.5729
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.4439 A=0.5561
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.1061 A=0.8939, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 G=0.1135 A=0.8865
Genome-wide autozygosity in Daghestan Global Study-wide 1136 G=0.4859 A=0.5141
Genome-wide autozygosity in Daghestan Daghestan Sub 628 G=0.524 A=0.476
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=0.507 A=0.493
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.352 A=0.648
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.435 A=0.565
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.47 A=0.53
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.39 A=0.61
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.415 A=0.585
Northern Sweden ACPOP Study-wide 600 G=0.345 A=0.655
SGDP_PRJ Global Study-wide 488 G=0.225 A=0.775
HapMap Global Study-wide 330 G=0.276 A=0.724
HapMap African Sub 120 G=0.242 A=0.758
HapMap American Sub 120 G=0.442 A=0.558
HapMap Asian Sub 90 G=0.10 A=0.90
Qatari Global Study-wide 216 G=0.440 A=0.560
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.159 A=0.841
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 78 G=0.46 A=0.54
Siberian Global Study-wide 56 G=0.27 A=0.73
The Danish reference pan genome Danish Study-wide 40 G=0.47 A=0.53
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 G= A T
GRCh38.p13 chr 1 NC_000001.11:g.30841338= NC_000001.11:g.30841338G>A NC_000001.11:g.30841338G>T
GRCh37.p13 chr 1 NC_000001.10:g.31314185= NC_000001.10:g.31314185G>A NC_000001.10:g.31314185G>T
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#.

84 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss18069708 Feb 27, 2004 (120)
2 SC_SNP ss18243011 Feb 27, 2004 (120)
3 SC_SNP ss18607150 Feb 27, 2004 (120)
4 CSHL-HAPMAP ss19095308 Feb 27, 2004 (120)
5 SSAHASNP ss20429288 Apr 05, 2004 (121)
6 PERLEGEN ss24628584 Sep 20, 2004 (123)
7 ABI ss44038534 Mar 14, 2006 (126)
8 PERLEGEN ss68762699 May 16, 2007 (127)
9 BCMHGSC_JDW ss87336074 Mar 23, 2008 (129)
10 HUMANGENOME_JCVI ss97928674 Feb 03, 2009 (130)
11 BGI ss105137892 Dec 01, 2009 (131)
12 1000GENOMES ss108097416 Jan 22, 2009 (130)
13 1000GENOMES ss110250561 Jan 24, 2009 (130)
14 ILLUMINA-UK ss118599853 Feb 14, 2009 (130)
15 ENSEMBL ss137870069 Dec 01, 2009 (131)
16 ENSEMBL ss138981262 Dec 01, 2009 (131)
17 GMI ss154829419 Dec 01, 2009 (131)
18 ILLUMINA ss159915372 Dec 01, 2009 (131)
19 COMPLETE_GENOMICS ss163236969 Jul 04, 2010 (132)
20 COMPLETE_GENOMICS ss164056964 Jul 04, 2010 (132)
21 COMPLETE_GENOMICS ss166318118 Jul 04, 2010 (132)
22 BUSHMAN ss198246480 Jul 04, 2010 (132)
23 BCM-HGSC-SUB ss205048158 Jul 04, 2010 (132)
24 1000GENOMES ss218308505 Jul 14, 2010 (132)
25 1000GENOMES ss230479886 Jul 14, 2010 (132)
26 1000GENOMES ss238183925 Jul 15, 2010 (132)
27 GMI ss275770848 May 04, 2012 (137)
28 GMI ss284027150 Apr 25, 2013 (138)
29 PJP ss290799690 May 09, 2011 (134)
30 ILLUMINA ss479727341 Sep 08, 2015 (146)
31 ILLUMINA ss482314246 May 04, 2012 (137)
32 ILLUMINA ss483691651 May 04, 2012 (137)
33 ILLUMINA ss535893409 Sep 08, 2015 (146)
34 TISHKOFF ss553946248 Apr 25, 2013 (138)
35 SSMP ss647693945 Apr 25, 2013 (138)
36 ILLUMINA ss780372590 Sep 08, 2015 (146)
37 ILLUMINA ss782289322 Sep 08, 2015 (146)
38 ILLUMINA ss835860790 Sep 08, 2015 (146)
39 EVA-GONL ss974998501 Aug 21, 2014 (142)
40 JMKIDD_LAB ss1067770418 Aug 21, 2014 (142)
41 1000GENOMES ss1290242240 Aug 21, 2014 (142)
42 HAMMER_LAB ss1397242278 Sep 08, 2015 (146)
43 DDI ss1425762008 Apr 01, 2015 (144)
44 EVA_GENOME_DK ss1573969653 Apr 01, 2015 (144)
45 EVA_DECODE ss1584358159 Apr 01, 2015 (144)
46 EVA_UK10K_ALSPAC ss1599834073 Apr 01, 2015 (144)
47 EVA_UK10K_TWINSUK ss1642828106 Apr 01, 2015 (144)
48 HAMMER_LAB ss1794132316 Sep 08, 2015 (146)
49 WEILL_CORNELL_DGM ss1918210841 Feb 12, 2016 (147)
50 GENOMED ss1966714823 Jul 19, 2016 (147)
51 JJLAB ss2019616942 Sep 14, 2016 (149)
52 USC_VALOUEV ss2147625560 Dec 20, 2016 (150)
53 HUMAN_LONGEVITY ss2161150074 Dec 20, 2016 (150)
54 TOPMED ss2323348444 Dec 20, 2016 (150)
55 SYSTEMSBIOZJU ss2624324823 Nov 08, 2017 (151)
56 ILLUMINA ss2632496399 Nov 08, 2017 (151)
57 GRF ss2697531725 Nov 08, 2017 (151)
58 GNOMAD ss2753272785 Nov 08, 2017 (151)
59 SWEGEN ss2986552414 Nov 08, 2017 (151)
60 BIOINF_KMB_FNS_UNIBA ss3023573774 Nov 08, 2017 (151)
61 TOPMED ss3072323283 Nov 08, 2017 (151)
62 CSHL ss3343388773 Nov 08, 2017 (151)
63 ILLUMINA ss3626060601 Oct 11, 2018 (152)
64 ILLUMINA ss3630533591 Oct 11, 2018 (152)
65 ILLUMINA ss3635991632 Oct 11, 2018 (152)
66 ILLUMINA ss3641580699 Oct 11, 2018 (152)
67 URBANLAB ss3646633579 Oct 11, 2018 (152)
68 EGCUT_WGS ss3654615615 Jul 12, 2019 (153)
69 EVA_DECODE ss3686450830 Jul 12, 2019 (153)
70 ACPOP ss3726911643 Jul 12, 2019 (153)
71 EVA ss3746002922 Jul 12, 2019 (153)
72 PACBIO ss3783367824 Jul 12, 2019 (153)
73 PACBIO ss3789034356 Jul 12, 2019 (153)
74 PACBIO ss3793906933 Jul 12, 2019 (153)
75 KHV_HUMAN_GENOMES ss3799021121 Jul 12, 2019 (153)
76 EVA ss3826096461 Apr 25, 2020 (154)
77 EVA ss3836436153 Apr 25, 2020 (154)
78 EVA ss3841841255 Apr 25, 2020 (154)
79 SGDP_PRJ ss3848517694 Apr 25, 2020 (154)
80 KRGDB ss3893456464 Apr 25, 2020 (154)
81 KOGIC ss3944155331 Apr 25, 2020 (154)
82 EVA ss3984786994 Apr 25, 2021 (155)
83 TOPMED ss4443945436 Apr 25, 2021 (155)
84 TOMMO_GENOMICS ss5143181036 Apr 25, 2021 (155)
85 1000Genomes NC_000001.10 - 31314185 Oct 11, 2018 (152)
86 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 31314185 Oct 11, 2018 (152)
87 Genome-wide autozygosity in Daghestan NC_000001.9 - 31086772 Apr 25, 2020 (154)
88 Genetic variation in the Estonian population NC_000001.10 - 31314185 Oct 11, 2018 (152)
89 The Danish reference pan genome NC_000001.10 - 31314185 Apr 25, 2020 (154)
90 gnomAD - Genomes NC_000001.11 - 30841338 Apr 25, 2021 (155)
91 Genome of the Netherlands Release 5 NC_000001.10 - 31314185 Apr 25, 2020 (154)
92 HapMap NC_000001.11 - 30841338 Apr 25, 2020 (154)
93 KOREAN population from KRGDB NC_000001.10 - 31314185 Apr 25, 2020 (154)
94 Korean Genome Project NC_000001.11 - 30841338 Apr 25, 2020 (154)
95 Northern Sweden NC_000001.10 - 31314185 Jul 12, 2019 (153)
96 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 31314185 Apr 25, 2021 (155)
97 Qatari NC_000001.10 - 31314185 Apr 25, 2020 (154)
98 SGDP_PRJ NC_000001.10 - 31314185 Apr 25, 2020 (154)
99 Siberian NC_000001.10 - 31314185 Apr 25, 2020 (154)
100 8.3KJPN NC_000001.10 - 31314185 Apr 25, 2021 (155)
101 TopMed NC_000001.11 - 30841338 Apr 25, 2021 (155)
102 UK 10K study - Twins NC_000001.10 - 31314185 Oct 11, 2018 (152)
103 A Vietnamese Genetic Variation Database NC_000001.10 - 31314185 Jul 12, 2019 (153)
104 ALFA NC_000001.11 - 30841338 Apr 25, 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)
rs17342142 Oct 07, 2004 (123)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
3740, ss87336074, ss108097416, ss110250561, ss118599853, ss163236969, ss164056964, ss166318118, ss198246480, ss205048158, ss275770848, ss284027150, ss290799690, ss482314246, ss1397242278, ss1584358159 NC_000001.9:31086771:G:A NC_000001.11:30841337:G:A (self)
937481, 501991, 353863, 1444277, 215982, 633858, 196508, 12921, 252771, 534674, 141914, 1150343, 501991, 103753, ss218308505, ss230479886, ss238183925, ss479727341, ss483691651, ss535893409, ss553946248, ss647693945, ss780372590, ss782289322, ss835860790, ss974998501, ss1067770418, ss1290242240, ss1425762008, ss1573969653, ss1599834073, ss1642828106, ss1794132316, ss1918210841, ss1966714823, ss2019616942, ss2147625560, ss2323348444, ss2624324823, ss2632496399, ss2697531725, ss2753272785, ss2986552414, ss3343388773, ss3626060601, ss3630533591, ss3635991632, ss3641580699, ss3654615615, ss3726911643, ss3746002922, ss3783367824, ss3789034356, ss3793906933, ss3826096461, ss3836436153, ss3848517694, ss3893456464, ss3984786994, ss5143181036 NC_000001.10:31314184:G:A NC_000001.11:30841337:G:A (self)
6586490, 39365, 533332, 4753060, 7551771, 8537204073, ss2161150074, ss3023573774, ss3072323283, ss3646633579, ss3686450830, ss3799021121, ss3841841255, ss3944155331, ss4443945436 NC_000001.11:30841337:G:A NC_000001.11:30841337:G:A (self)
ss18069708, ss18243011, ss18607150, ss19095308, ss20429288 NT_004511.16:1252585:G:A NC_000001.11:30841337:G:A (self)
ss24628584, ss44038534, ss68762699, ss97928674, ss105137892, ss137870069, ss138981262, ss154829419, ss159915372 NT_032977.9:1286102:G:A NC_000001.11:30841337:G:A (self)
633858, ss3893456464 NC_000001.10:31314184:G:T NC_000001.11:30841337:G: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 rs10753238

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