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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.

rs10737553

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:170427799 (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>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.077766 (20584/264690, TOPMED)
G=0.073841 (10310/139624, GnomAD)
G=0.00000 (0/28256, 14KJPN) (+ 16 more)
G=0.04082 (771/18890, ALFA)
G=0.00000 (0/16760, 8.3KJPN)
G=0.0879 (563/6404, 1000G_30x)
G=0.0827 (414/5008, 1000G)
G=0.0005 (2/3854, ALSPAC)
G=0.0005 (2/3708, TWINSUK)
G=0.0000 (0/2930, KOREAN)
C=0.0000 (0/2930, KOREAN)
T=0.0000 (0/2930, KOREAN)
G=0.0000 (0/1832, Korea1K)
G=0.000 (0/600, NorthernSweden)
G=0.024 (13/550, SGDP_PRJ)
G=0.051 (11/216, Qatari)
G=0.000 (0/216, Vietnamese)
G=0.00 (0/56, Siberian)
G=0.00 (0/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
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=0.04082 A=0.95918
European Sub 14286 G=0.00161 A=0.99839
African Sub 2946 G=0.2363 A=0.7637
African Others Sub 114 G=0.281 A=0.719
African American Sub 2832 G=0.2345 A=0.7655
Asian Sub 112 G=0.000 A=1.000
East Asian Sub 86 G=0.00 A=1.00
Other Asian Sub 26 G=0.00 A=1.00
Latin American 1 Sub 146 G=0.055 A=0.945
Latin American 2 Sub 610 G=0.010 A=0.990
South Asian Sub 98 G=0.00 A=1.00
Other Sub 692 G=0.055 A=0.945


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=0.077766 A=0.922234
gnomAD - Genomes Global Study-wide 139624 G=0.073841 A=0.926159
gnomAD - Genomes European Sub 75796 G=0.00141 A=0.99859
gnomAD - Genomes African Sub 41640 G=0.23009 A=0.76991
gnomAD - Genomes American Sub 13596 G=0.02729 A=0.97271
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.0358 A=0.9642
gnomAD - Genomes East Asian Sub 3120 G=0.0003 A=0.9997
gnomAD - Genomes Other Sub 2148 G=0.0610 A=0.9390
14KJPN JAPANESE Study-wide 28256 G=0.00000 A=1.00000
Allele Frequency Aggregator Total Global 18890 G=0.04082 A=0.95918
Allele Frequency Aggregator European Sub 14286 G=0.00161 A=0.99839
Allele Frequency Aggregator African Sub 2946 G=0.2363 A=0.7637
Allele Frequency Aggregator Other Sub 692 G=0.055 A=0.945
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.010 A=0.990
Allele Frequency Aggregator Latin American 1 Sub 146 G=0.055 A=0.945
Allele Frequency Aggregator Asian Sub 112 G=0.000 A=1.000
Allele Frequency Aggregator South Asian Sub 98 G=0.00 A=1.00
8.3KJPN JAPANESE Study-wide 16760 G=0.00000 A=1.00000
1000Genomes_30x Global Study-wide 6404 G=0.0879 A=0.9121
1000Genomes_30x African Sub 1786 G=0.3052 A=0.6948
1000Genomes_30x Europe Sub 1266 G=0.0000 A=1.0000
1000Genomes_30x South Asian Sub 1202 G=0.0000 A=1.0000
1000Genomes_30x East Asian Sub 1170 G=0.0000 A=1.0000
1000Genomes_30x American Sub 980 G=0.018 A=0.982
1000Genomes Global Study-wide 5008 G=0.0827 A=0.9173
1000Genomes African Sub 1322 G=0.3033 A=0.6967
1000Genomes East Asian Sub 1008 G=0.0000 A=1.0000
1000Genomes Europe Sub 1006 G=0.0000 A=1.0000
1000Genomes South Asian Sub 978 G=0.000 A=1.000
1000Genomes American Sub 694 G=0.019 A=0.981
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.0005 A=0.9995
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.0005 A=0.9995
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.0000 A=1.0000, C=0.0000, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 G=0.0000 A=1.0000
Northern Sweden ACPOP Study-wide 600 G=0.000 A=1.000
SGDP_PRJ Global Study-wide 550 G=0.024 A=0.976
Qatari Global Study-wide 216 G=0.051 A=0.949
A Vietnamese Genetic Variation Database Global Study-wide 216 G=0.000 A=1.000
Siberian Global Study-wide 56 G=0.00 A=1.00
The Danish reference pan genome Danish Study-wide 40 G=0.00 A=1.00
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 1 NC_000001.11:g.170427799G>A
GRCh38.p14 chr 1 NC_000001.11:g.170427799G>C
GRCh38.p14 chr 1 NC_000001.11:g.170427799G>T
GRCh37.p13 chr 1 NC_000001.10:g.170396940G>A
GRCh37.p13 chr 1 NC_000001.10:g.170396940G>C
GRCh37.p13 chr 1 NC_000001.10:g.170396940G>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
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 C T
GRCh38.p14 chr 1 NC_000001.11:g.170427799= NC_000001.11:g.170427799G>A NC_000001.11:g.170427799G>C NC_000001.11:g.170427799G>T
GRCh37.p13 chr 1 NC_000001.10:g.170396940= NC_000001.10:g.170396940G>A NC_000001.10:g.170396940G>C NC_000001.10:g.170396940G>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#.

75 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss16384128 Feb 27, 2004 (120)
2 SC_SNP ss18069723 Feb 27, 2004 (120)
3 SC_SNP ss18243031 Feb 27, 2004 (120)
4 CSHL-HAPMAP ss19095323 Feb 27, 2004 (120)
5 CSHL-HAPMAP ss19829373 Feb 27, 2004 (120)
6 SSAHASNP ss20429504 Apr 05, 2004 (121)
7 BCMHGSC_JDW ss87865504 Mar 23, 2008 (129)
8 HUMANGENOME_JCVI ss97983402 Feb 05, 2009 (130)
9 BGI ss106610487 Feb 05, 2009 (130)
10 1000GENOMES ss108691498 Jan 23, 2009 (130)
11 1000GENOMES ss111324704 Jan 25, 2009 (130)
12 ILLUMINA-UK ss119084612 Dec 01, 2009 (131)
13 ENSEMBL ss138102481 Dec 01, 2009 (131)
14 ENSEMBL ss139171681 Dec 01, 2009 (131)
15 GMI ss155912141 Dec 01, 2009 (131)
16 COMPLETE_GENOMICS ss164391086 Jul 04, 2010 (132)
17 COMPLETE_GENOMICS ss165417940 Jul 04, 2010 (132)
18 COMPLETE_GENOMICS ss167265622 Jul 04, 2010 (132)
19 BUSHMAN ss199230264 Jul 04, 2010 (132)
20 BCM-HGSC-SUB ss205068699 Jul 04, 2010 (132)
21 1000GENOMES ss218711668 Jul 14, 2010 (132)
22 1000GENOMES ss230777238 Jul 14, 2010 (132)
23 1000GENOMES ss238415759 Jul 15, 2010 (132)
24 BL ss253596958 May 09, 2011 (134)
25 GMI ss276097363 May 04, 2012 (137)
26 GMI ss284173494 Apr 25, 2013 (138)
27 PJP ss290661415 May 09, 2011 (134)
28 TISHKOFF ss554835321 Apr 25, 2013 (138)
29 SSMP ss648491831 Apr 25, 2013 (138)
30 JMKIDD_LAB ss1068356047 Aug 21, 2014 (142)
31 1000GENOMES ss1293373104 Aug 21, 2014 (142)
32 DDI ss1426014537 Apr 01, 2015 (144)
33 EVA_GENOME_DK ss1574469009 Apr 01, 2015 (144)
34 EVA_DECODE ss1585187513 Apr 01, 2015 (144)
35 EVA_UK10K_ALSPAC ss1601452978 Apr 01, 2015 (144)
36 EVA_UK10K_TWINSUK ss1644447011 Apr 01, 2015 (144)
37 HAMMER_LAB ss1795254606 Sep 08, 2015 (146)
38 WEILL_CORNELL_DGM ss1919038115 Feb 12, 2016 (147)
39 GENOMED ss1966896046 Jul 19, 2016 (147)
40 JJLAB ss2020035208 Sep 14, 2016 (149)
41 USC_VALOUEV ss2148062727 Dec 20, 2016 (150)
42 HUMAN_LONGEVITY ss2167438154 Dec 20, 2016 (150)
43 SYSTEMSBIOZJU ss2624526795 Nov 08, 2017 (151)
44 GRF ss2698040902 Nov 08, 2017 (151)
45 GNOMAD ss2762572198 Nov 08, 2017 (151)
46 SWEGEN ss2987934286 Nov 08, 2017 (151)
47 BIOINF_KMB_FNS_UNIBA ss3023776083 Nov 08, 2017 (151)
48 CSHL ss3343764595 Nov 08, 2017 (151)
49 URBANLAB ss3646817285 Oct 11, 2018 (152)
50 EVA_DECODE ss3688002048 Jul 12, 2019 (153)
51 ACPOP ss3727585419 Jul 12, 2019 (153)
52 EVA ss3746945924 Jul 12, 2019 (153)
53 PACBIO ss3783599759 Jul 12, 2019 (153)
54 PACBIO ss3789226136 Jul 12, 2019 (153)
55 PACBIO ss3794098194 Jul 12, 2019 (153)
56 KHV_HUMAN_GENOMES ss3799947581 Jul 12, 2019 (153)
57 EVA ss3826484502 Apr 25, 2020 (154)
58 EVA ss3836638895 Apr 25, 2020 (154)
59 EVA ss3842048838 Apr 25, 2020 (154)
60 SGDP_PRJ ss3850237827 Apr 25, 2020 (154)
61 KRGDB ss3895474904 Apr 25, 2020 (154)
62 KOGIC ss3945874312 Apr 25, 2020 (154)
63 TOPMED ss4472193369 Apr 25, 2021 (155)
64 TOMMO_GENOMICS ss5146986410 Apr 25, 2021 (155)
65 1000G_HIGH_COVERAGE ss5244679682 Oct 12, 2022 (156)
66 EVA ss5322756968 Oct 12, 2022 (156)
67 HUGCELL_USP ss5445226351 Oct 12, 2022 (156)
68 1000G_HIGH_COVERAGE ss5518202083 Oct 12, 2022 (156)
69 SANFORD_IMAGENETICS ss5626814380 Oct 12, 2022 (156)
70 TOMMO_GENOMICS ss5674329799 Oct 12, 2022 (156)
71 YY_MCH ss5801359274 Oct 12, 2022 (156)
72 EVA ss5832820543 Oct 12, 2022 (156)
73 EVA ss5849155568 Oct 12, 2022 (156)
74 EVA ss5910689612 Oct 12, 2022 (156)
75 EVA ss5938617107 Oct 12, 2022 (156)
76 1000Genomes NC_000001.10 - 170396940 Oct 11, 2018 (152)
77 1000Genomes_30x NC_000001.11 - 170427799 Oct 12, 2022 (156)
78 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 170396940 Oct 11, 2018 (152)
79 The Danish reference pan genome NC_000001.10 - 170396940 Apr 25, 2020 (154)
80 gnomAD - Genomes NC_000001.11 - 170427799 Apr 25, 2021 (155)
81 KOREAN population from KRGDB NC_000001.10 - 170396940 Apr 25, 2020 (154)
82 Korean Genome Project NC_000001.11 - 170427799 Apr 25, 2020 (154)
83 Northern Sweden NC_000001.10 - 170396940 Jul 12, 2019 (153)
84 Qatari NC_000001.10 - 170396940 Apr 25, 2020 (154)
85 SGDP_PRJ NC_000001.10 - 170396940 Apr 25, 2020 (154)
86 Siberian NC_000001.10 - 170396940 Apr 25, 2020 (154)
87 8.3KJPN NC_000001.10 - 170396940 Apr 25, 2021 (155)
88 14KJPN NC_000001.11 - 170427799 Oct 12, 2022 (156)
89 TopMed NC_000001.11 - 170427799 Apr 25, 2021 (155)
90 UK 10K study - Twins NC_000001.10 - 170396940 Oct 11, 2018 (152)
91 A Vietnamese Genetic Variation Database NC_000001.10 - 170396940 Jul 12, 2019 (153)
92 ALFA NC_000001.11 - 170427799 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss87865504, ss108691498, ss111324704, ss119084612, ss164391086, ss165417940, ss167265622, ss199230264, ss205068699, ss253596958, ss276097363, ss284173494, ss290661415, ss1585187513 NC_000001.9:168663563:G:A NC_000001.11:170427798:G:A (self)
4180473, 2283291, 1755673, 2652298, 870284, 1080045, 2254807, 579081, 4955717, 2283291, 491324, ss218711668, ss230777238, ss238415759, ss554835321, ss648491831, ss1068356047, ss1293373104, ss1426014537, ss1574469009, ss1601452978, ss1644447011, ss1795254606, ss1919038115, ss1966896046, ss2020035208, ss2148062727, ss2624526795, ss2698040902, ss2762572198, ss2987934286, ss3343764595, ss3727585419, ss3746945924, ss3783599759, ss3789226136, ss3794098194, ss3826484502, ss3836638895, ss3850237827, ss3895474904, ss5146986410, ss5322756968, ss5626814380, ss5832820543, ss5938617107 NC_000001.10:170396939:G:A NC_000001.11:170427798:G:A (self)
5728018, 30242554, 2252313, 8166903, 35799704, 4915624012, ss2167438154, ss3023776083, ss3646817285, ss3688002048, ss3799947581, ss3842048838, ss3945874312, ss4472193369, ss5244679682, ss5445226351, ss5518202083, ss5674329799, ss5801359274, ss5849155568, ss5910689612 NC_000001.11:170427798:G:A NC_000001.11:170427798:G:A (self)
ss97983402, ss106610487, ss138102481, ss139171681, ss155912141 NT_004487.19:21885581:G:A NC_000001.11:170427798:G:A (self)
ss16384128, ss18069723, ss18243031, ss19095323, ss19829373, ss20429504 NT_004668.16:8902411:G:A NC_000001.11:170427798:G:A (self)
2652298, ss3895474904 NC_000001.10:170396939:G:C NC_000001.11:170427798:G:C (self)
2652298, ss3895474904 NC_000001.10:170396939:G:T NC_000001.11:170427798: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 rs10737553

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