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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.

rs10752915

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:183731386 (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
G>A / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.457286 (121039/264690, TOPMED)
A=0.459043 (64210/139878, GnomAD)
G=0.20382 (5759/28256, 14KJPN) (+ 16 more)
A=0.47851 (9039/18890, ALFA)
G=0.20549 (3444/16760, 8.3KJPN)
A=0.4872 (3120/6404, 1000G_30x)
A=0.4970 (2489/5008, 1000G)
G=0.4951 (2218/4480, Estonian)
A=0.4777 (1841/3854, ALSPAC)
A=0.4903 (1818/3708, TWINSUK)
G=0.1976 (579/2930, KOREAN)
A=0.499 (498/998, GoNL)
A=0.480 (288/600, NorthernSweden)
G=0.274 (115/420, SGDP_PRJ)
A=0.472 (149/316, HapMap)
A=0.444 (96/216, Qatari)
G=0.224 (48/214, Vietnamese)
G=0.23 (11/48, Siberian)
G=0.28 (11/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RGL1 : 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 18890 G=0.52149 A=0.47851
European Sub 14286 G=0.49391 A=0.50609
African Sub 2946 G=0.6707 A=0.3293
African Others Sub 114 G=0.719 A=0.281
African American Sub 2832 G=0.6688 A=0.3312
Asian Sub 112 G=0.241 A=0.759
East Asian Sub 86 G=0.23 A=0.77
Other Asian Sub 26 G=0.27 A=0.73
Latin American 1 Sub 146 G=0.582 A=0.418
Latin American 2 Sub 610 G=0.530 A=0.470
South Asian Sub 98 G=0.42 A=0.58
Other Sub 692 G=0.496 A=0.504


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=0.542714 A=0.457286
gnomAD - Genomes Global Study-wide 139878 G=0.540957 A=0.459043
gnomAD - Genomes European Sub 75788 G=0.49018 A=0.50982
gnomAD - Genomes African Sub 41892 G=0.67230 A=0.32770
gnomAD - Genomes American Sub 13610 G=0.51352 A=0.48648
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.4901 A=0.5099
gnomAD - Genomes East Asian Sub 3124 G=0.1962 A=0.8038
gnomAD - Genomes Other Sub 2142 G=0.5247 A=0.4753
14KJPN JAPANESE Study-wide 28256 G=0.20382 A=0.79618
Allele Frequency Aggregator Total Global 18890 G=0.52149 A=0.47851
Allele Frequency Aggregator European Sub 14286 G=0.49391 A=0.50609
Allele Frequency Aggregator African Sub 2946 G=0.6707 A=0.3293
Allele Frequency Aggregator Other Sub 692 G=0.496 A=0.504
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.530 A=0.470
Allele Frequency Aggregator Latin American 1 Sub 146 G=0.582 A=0.418
Allele Frequency Aggregator Asian Sub 112 G=0.241 A=0.759
Allele Frequency Aggregator South Asian Sub 98 G=0.42 A=0.58
8.3KJPN JAPANESE Study-wide 16760 G=0.20549 A=0.79451
1000Genomes_30x Global Study-wide 6404 G=0.5128 A=0.4872
1000Genomes_30x African Sub 1786 G=0.7111 A=0.2889
1000Genomes_30x Europe Sub 1266 G=0.5008 A=0.4992
1000Genomes_30x South Asian Sub 1202 G=0.4609 A=0.5391
1000Genomes_30x East Asian Sub 1170 G=0.2179 A=0.7821
1000Genomes_30x American Sub 980 G=0.583 A=0.417
1000Genomes Global Study-wide 5008 G=0.5030 A=0.4970
1000Genomes African Sub 1322 G=0.7179 A=0.2821
1000Genomes East Asian Sub 1008 G=0.2183 A=0.7817
1000Genomes Europe Sub 1006 G=0.4960 A=0.5040
1000Genomes South Asian Sub 978 G=0.460 A=0.540
1000Genomes American Sub 694 G=0.578 A=0.422
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.4951 A=0.5049
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.5223 A=0.4777
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.5097 A=0.4903
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.1976 A=0.8024, T=0.0000
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.501 A=0.499
Northern Sweden ACPOP Study-wide 600 G=0.520 A=0.480
SGDP_PRJ Global Study-wide 420 G=0.274 A=0.726
HapMap Global Study-wide 316 G=0.528 A=0.472
HapMap American Sub 116 G=0.595 A=0.405
HapMap African Sub 114 G=0.728 A=0.272
HapMap Asian Sub 86 G=0.17 A=0.83
Qatari Global Study-wide 216 G=0.556 A=0.444
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.224 A=0.776
Siberian Global Study-wide 48 G=0.23 A=0.77
The Danish reference pan genome Danish Study-wide 40 G=0.28 A=0.72
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 1 NC_000001.11:g.183731386G>A
GRCh38.p14 chr 1 NC_000001.11:g.183731386G>T
GRCh37.p13 chr 1 NC_000001.10:g.183700521G>A
GRCh37.p13 chr 1 NC_000001.10:g.183700521G>T
Gene: RGL1, ral guanine nucleotide dissociation stimulator like 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RGL1 transcript variant 2 NM_001297669.3:c.-32-1074…

NM_001297669.3:c.-32-10740G>A

 		N/A Intron Variant
RGL1 transcript variant 3 NM_001297670.3:c.-32-1074…

NM_001297670.3:c.-32-10740G>A

 		N/A Intron Variant
RGL1 transcript variant 1 NM_015149.6:c.-32-10740G>A N/A Intron Variant
RGL1 transcript variant 4 NM_001297671.3:c. N/A Genic Upstream Transcript Variant
RGL1 transcript variant 5 NM_001297672.3:c. N/A Genic Upstream Transcript Variant
RGL1 transcript variant X1 XM_011509339.4:c.-32-1074…

XM_011509339.4:c.-32-10740G>A

 		N/A Intron Variant
RGL1 transcript variant X3 XM_011509341.2:c.-32-1074…

XM_011509341.2:c.-32-10740G>A

 		N/A Intron Variant
RGL1 transcript variant X8 XM_011509342.3:c.-32-1074…

XM_011509342.3:c.-32-10740G>A

 		N/A Intron Variant
RGL1 transcript variant X2 XM_047415677.1:c.-32-1074…

XM_047415677.1:c.-32-10740G>A

 		N/A Intron Variant
RGL1 transcript variant X4 XM_047415682.1:c.-32-1074…

XM_047415682.1:c.-32-10740G>A

 		N/A Intron Variant
RGL1 transcript variant X6 XM_047415686.1:c.-32-1074…

XM_047415686.1:c.-32-10740G>A

 		N/A Intron Variant
RGL1 transcript variant X7 XM_047415687.1:c.-32-1074…

XM_047415687.1:c.-32-10740G>A

 		N/A Intron Variant
RGL1 transcript variant X5 XM_017000756.3: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 G= A T
GRCh38.p14 chr 1 NC_000001.11:g.183731386= NC_000001.11:g.183731386G>A NC_000001.11:g.183731386G>T
GRCh37.p13 chr 1 NC_000001.10:g.183700521= NC_000001.10:g.183700521G>A NC_000001.10:g.183700521G>T
RGL1 transcript variant 2 NM_001297669.3:c.-32-10740= NM_001297669.3:c.-32-10740G>A NM_001297669.3:c.-32-10740G>T
RGL1 transcript variant 3 NM_001297670.3:c.-32-10740= NM_001297670.3:c.-32-10740G>A NM_001297670.3:c.-32-10740G>T
RGL1 transcript NM_015149.3:c.-32-10740= NM_015149.3:c.-32-10740G>A NM_015149.3:c.-32-10740G>T
RGL1 transcript variant 1 NM_015149.6:c.-32-10740= NM_015149.6:c.-32-10740G>A NM_015149.6:c.-32-10740G>T
RGL1 transcript variant X2 XM_005245011.1:c.-32-10740= XM_005245011.1:c.-32-10740G>A XM_005245011.1:c.-32-10740G>T
RGL1 transcript variant X3 XM_005245012.1:c.-32-10740= XM_005245012.1:c.-32-10740G>A XM_005245012.1:c.-32-10740G>T
RGL1 transcript variant X1 XM_011509339.4:c.-32-10740= XM_011509339.4:c.-32-10740G>A XM_011509339.4:c.-32-10740G>T
RGL1 transcript variant X3 XM_011509341.2:c.-32-10740= XM_011509341.2:c.-32-10740G>A XM_011509341.2:c.-32-10740G>T
RGL1 transcript variant X8 XM_011509342.3:c.-32-10740= XM_011509342.3:c.-32-10740G>A XM_011509342.3:c.-32-10740G>T
RGL1 transcript variant X2 XM_047415677.1:c.-32-10740= XM_047415677.1:c.-32-10740G>A XM_047415677.1:c.-32-10740G>T
RGL1 transcript variant X4 XM_047415682.1:c.-32-10740= XM_047415682.1:c.-32-10740G>A XM_047415682.1:c.-32-10740G>T
RGL1 transcript variant X6 XM_047415686.1:c.-32-10740= XM_047415686.1:c.-32-10740G>A XM_047415686.1:c.-32-10740G>T
RGL1 transcript variant X7 XM_047415687.1:c.-32-10740= XM_047415687.1:c.-32-10740G>A XM_047415687.1:c.-32-10740G>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#.

74 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss15411865 Feb 27, 2004 (120)
2 SC_SNP ss18137278 Feb 27, 2004 (120)
3 SC_SNP ss18244090 Feb 27, 2004 (120)
4 SC_SNP ss18328010 Feb 27, 2004 (120)
5 SSAHASNP ss20443004 Apr 05, 2004 (121)
6 ABI ss44030260 Mar 15, 2006 (126)
7 HGSV ss85748038 Dec 14, 2007 (130)
8 BCMHGSC_JDW ss87894236 Mar 23, 2008 (129)
9 HUMANGENOME_JCVI ss97988592 Feb 03, 2009 (130)
10 BGI ss106615592 Feb 03, 2009 (130)
11 1000GENOMES ss111456106 Jan 25, 2009 (130)
12 ILLUMINA-UK ss119123895 Feb 15, 2009 (130)
13 ENSEMBL ss138116706 Dec 01, 2009 (131)
14 ENSEMBL ss139141013 Dec 01, 2009 (131)
15 GMI ss156010594 Dec 01, 2009 (131)
16 COMPLETE_GENOMICS ss164613217 Jul 04, 2010 (132)
17 COMPLETE_GENOMICS ss165532993 Jul 04, 2010 (132)
18 COMPLETE_GENOMICS ss167353147 Jul 04, 2010 (132)
19 BUSHMAN ss199338179 Jul 04, 2010 (132)
20 BCM-HGSC-SUB ss205300224 Jul 04, 2010 (132)
21 1000GENOMES ss218759372 Jul 14, 2010 (132)
22 1000GENOMES ss230811781 Jul 14, 2010 (132)
23 1000GENOMES ss238441767 Jul 15, 2010 (132)
24 BL ss253661479 May 09, 2011 (134)
25 GMI ss276128772 May 04, 2012 (137)
26 GMI ss284187651 Apr 25, 2013 (138)
27 PJP ss290678414 May 09, 2011 (134)
28 TISHKOFF ss554932401 Apr 25, 2013 (138)
29 SSMP ss648547537 Apr 25, 2013 (138)
30 EVA-GONL ss975894098 Aug 21, 2014 (142)
31 JMKIDD_LAB ss1068423472 Aug 21, 2014 (142)
32 1000GENOMES ss1293731458 Aug 21, 2014 (142)
33 DDI ss1426040374 Apr 01, 2015 (144)
34 EVA_GENOME_DK ss1574526335 Apr 01, 2015 (144)
35 EVA_DECODE ss1585285901 Apr 01, 2015 (144)
36 EVA_UK10K_ALSPAC ss1601646335 Apr 01, 2015 (144)
37 EVA_UK10K_TWINSUK ss1644640368 Apr 01, 2015 (144)
38 HAMMER_LAB ss1795385700 Sep 08, 2015 (146)
39 WEILL_CORNELL_DGM ss1919129656 Feb 12, 2016 (147)
40 GENOMED ss1966916117 Jul 19, 2016 (147)
41 JJLAB ss2020081620 Sep 14, 2016 (149)
42 USC_VALOUEV ss2148109808 Dec 20, 2016 (150)
43 HUMAN_LONGEVITY ss2168188661 Dec 20, 2016 (150)
44 SYSTEMSBIOZJU ss2624549043 Nov 08, 2017 (151)
45 GRF ss2698092221 Nov 08, 2017 (151)
46 GNOMAD ss2763596956 Nov 08, 2017 (151)
47 SWEGEN ss2988075392 Nov 08, 2017 (151)
48 BIOINF_KMB_FNS_UNIBA ss3023800369 Nov 08, 2017 (151)
49 CSHL ss3343805191 Nov 08, 2017 (151)
50 URBANLAB ss3646835116 Oct 11, 2018 (152)
51 EGCUT_WGS ss3656025758 Jul 12, 2019 (153)
52 EVA_DECODE ss3688174985 Jul 12, 2019 (153)
53 ACPOP ss3727660462 Jul 12, 2019 (153)
54 EVA ss3747054435 Jul 12, 2019 (153)
55 KHV_HUMAN_GENOMES ss3800055110 Jul 12, 2019 (153)
56 EVA ss3826528855 Apr 25, 2020 (154)
57 EVA ss3836660945 Apr 25, 2020 (154)
58 EVA ss3842071336 Apr 25, 2020 (154)
59 SGDP_PRJ ss3850419648 Apr 25, 2020 (154)
60 KRGDB ss3895681831 Apr 25, 2020 (154)
61 TOPMED ss4475404368 Apr 25, 2021 (155)
62 TOMMO_GENOMICS ss5147390149 Apr 25, 2021 (155)
63 1000G_HIGH_COVERAGE ss5244990042 Oct 12, 2022 (156)
64 EVA ss5323326497 Oct 12, 2022 (156)
65 HUGCELL_USP ss5445505867 Oct 12, 2022 (156)
66 EVA ss5506103439 Oct 12, 2022 (156)
67 1000G_HIGH_COVERAGE ss5518669297 Oct 12, 2022 (156)
68 SANFORD_IMAGENETICS ss5626988642 Oct 12, 2022 (156)
69 TOMMO_GENOMICS ss5674851409 Oct 12, 2022 (156)
70 YY_MCH ss5801434219 Oct 12, 2022 (156)
71 EVA ss5832941595 Oct 12, 2022 (156)
72 EVA ss5849188678 Oct 12, 2022 (156)
73 EVA ss5911050425 Oct 12, 2022 (156)
74 EVA ss5938804934 Oct 12, 2022 (156)
75 1000Genomes NC_000001.10 - 183700521 Oct 11, 2018 (152)
76 1000Genomes_30x NC_000001.11 - 183731386 Oct 12, 2022 (156)
77 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 183700521 Oct 11, 2018 (152)
78 Genetic variation in the Estonian population NC_000001.10 - 183700521 Oct 11, 2018 (152)
79 The Danish reference pan genome NC_000001.10 - 183700521 Apr 25, 2020 (154)
80 gnomAD - Genomes NC_000001.11 - 183731386 Apr 25, 2021 (155)
81 Genome of the Netherlands Release 5 NC_000001.10 - 183700521 Apr 25, 2020 (154)
82 HapMap NC_000001.11 - 183731386 Apr 25, 2020 (154)
83 KOREAN population from KRGDB NC_000001.10 - 183700521 Apr 25, 2020 (154)
84 Northern Sweden NC_000001.10 - 183700521 Jul 12, 2019 (153)
85 Qatari NC_000001.10 - 183700521 Apr 25, 2020 (154)
86 SGDP_PRJ NC_000001.10 - 183700521 Apr 25, 2020 (154)
87 Siberian NC_000001.10 - 183700521 Apr 25, 2020 (154)
88 8.3KJPN NC_000001.10 - 183700521 Apr 25, 2021 (155)
89 14KJPN NC_000001.11 - 183731386 Oct 12, 2022 (156)
90 TopMed NC_000001.11 - 183731386 Apr 25, 2021 (155)
91 UK 10K study - Twins NC_000001.10 - 183700521 Oct 11, 2018 (152)
92 A Vietnamese Genetic Variation Database NC_000001.10 - 183700521 Jul 12, 2019 (153)
93 ALFA NC_000001.11 - 183731386 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)
rs56736995 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss85748038 NC_000001.8:180432177:G:A NC_000001.11:183731385:G:A (self)
ss87894236, ss111456106, ss119123895, ss164613217, ss165532993, ss167353147, ss199338179, ss205300224, ss253661479, ss276128772, ss284187651, ss290678414, ss1585285901 NC_000001.9:181967143:G:A NC_000001.11:183731385:G:A (self)
4551817, 2495759, 1764006, 1790672, 1084086, 2859225, 945327, 1171586, 2436628, 626162, 5359456, 2495759, 534876, ss218759372, ss230811781, ss238441767, ss554932401, ss648547537, ss975894098, ss1068423472, ss1293731458, ss1426040374, ss1574526335, ss1601646335, ss1644640368, ss1795385700, ss1919129656, ss1966916117, ss2020081620, ss2148109808, ss2624549043, ss2698092221, ss2763596956, ss2988075392, ss3343805191, ss3656025758, ss3727660462, ss3747054435, ss3826528855, ss3836660945, ss3850419648, ss3895681831, ss5147390149, ss5323326497, ss5506103439, ss5626988642, ss5832941595, ss5938804934 NC_000001.10:183700520:G:A NC_000001.11:183731385:G:A (self)
6195232, 32854899, 219396, 8688513, 39010703, 2610781564, ss2168188661, ss3023800369, ss3646835116, ss3688174985, ss3800055110, ss3842071336, ss4475404368, ss5244990042, ss5445505867, ss5518669297, ss5674851409, ss5801434219, ss5849188678, ss5911050425 NC_000001.11:183731385:G:A NC_000001.11:183731385:G:A (self)
ss15411865, ss18137278, ss18244090, ss20443004 NT_004487.16:12749017:G:A NC_000001.11:183731385:G:A (self)
ss18328010, ss44030260, ss97988592, ss106615592, ss138116706, ss139141013, ss156010594 NT_004487.19:35189162:G:A NC_000001.11:183731385:G:A (self)
2859225, ss3895681831 NC_000001.10:183700520:G:T NC_000001.11:183731385: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 rs10752915

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.post761+d5e8e07