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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.

rs4282437

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:30165626 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.121595 (32185/264690, TOPMED)
A=0.132386 (18547/140098, GnomAD)
A=0.35848 (10130/28258, 14KJPN) (+ 15 more)
A=0.13976 (2640/18890, ALFA)
A=0.36008 (6035/16760, 8.3KJPN)
A=0.1686 (1080/6404, 1000G_30x)
A=0.1741 (872/5008, 1000G)
A=0.1712 (767/4480, Estonian)
A=0.1546 (596/3854, ALSPAC)
A=0.1607 (596/3708, TWINSUK)
A=0.2737 (802/2930, KOREAN)
A=0.164 (164/998, GoNL)
A=0.205 (123/600, NorthernSweden)
A=0.116 (25/216, Qatari)
A=0.417 (90/216, Vietnamese)
G=0.401 (85/212, SGDP_PRJ)
A=0.12 (5/40, GENOME_DK)
G=0.46 (12/26, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TRIM15 : Intron Variant
TRIM10 : 2KB Upstream 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=0.86024 A=0.13976
European Sub 14286 G=0.83872 A=0.16128
African Sub 2946 G=0.9535 A=0.0465
African Others Sub 114 G=0.991 A=0.009
African American Sub 2832 G=0.9520 A=0.0480
Asian Sub 112 G=0.732 A=0.268
East Asian Sub 86 G=0.76 A=0.24
Other Asian Sub 26 G=0.65 A=0.35
Latin American 1 Sub 146 G=0.890 A=0.110
Latin American 2 Sub 610 G=0.885 A=0.115
South Asian Sub 98 G=0.82 A=0.18
Other Sub 692 G=0.906 A=0.094


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=0.878405 A=0.121595
gnomAD - Genomes Global Study-wide 140098 G=0.867614 A=0.132386
gnomAD - Genomes European Sub 75846 G=0.82123 A=0.17877
gnomAD - Genomes African Sub 42002 G=0.96005 A=0.03995
gnomAD - Genomes American Sub 13658 G=0.88131 A=0.11869
gnomAD - Genomes Ashkenazi Jewish Sub 3318 G=0.8659 A=0.1341
gnomAD - Genomes East Asian Sub 3130 G=0.6990 A=0.3010
gnomAD - Genomes Other Sub 2144 G=0.8591 A=0.1409
14KJPN JAPANESE Study-wide 28258 G=0.64152 A=0.35848
Allele Frequency Aggregator Total Global 18890 G=0.86024 A=0.13976
Allele Frequency Aggregator European Sub 14286 G=0.83872 A=0.16128
Allele Frequency Aggregator African Sub 2946 G=0.9535 A=0.0465
Allele Frequency Aggregator Other Sub 692 G=0.906 A=0.094
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.885 A=0.115
Allele Frequency Aggregator Latin American 1 Sub 146 G=0.890 A=0.110
Allele Frequency Aggregator Asian Sub 112 G=0.732 A=0.268
Allele Frequency Aggregator South Asian Sub 98 G=0.82 A=0.18
8.3KJPN JAPANESE Study-wide 16760 G=0.63992 A=0.36008
1000Genomes_30x Global Study-wide 6404 G=0.8314 A=0.1686
1000Genomes_30x African Sub 1786 G=0.9888 A=0.0112
1000Genomes_30x Europe Sub 1266 G=0.8183 A=0.1817
1000Genomes_30x South Asian Sub 1202 G=0.7496 A=0.2504
1000Genomes_30x East Asian Sub 1170 G=0.6402 A=0.3598
1000Genomes_30x American Sub 980 G=0.890 A=0.110
1000Genomes Global Study-wide 5008 G=0.8259 A=0.1741
1000Genomes African Sub 1322 G=0.9864 A=0.0136
1000Genomes East Asian Sub 1008 G=0.6429 A=0.3571
1000Genomes Europe Sub 1006 G=0.8181 A=0.1819
1000Genomes South Asian Sub 978 G=0.755 A=0.245
1000Genomes American Sub 694 G=0.898 A=0.102
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.8288 A=0.1712
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.8454 A=0.1546
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.8393 A=0.1607
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.7263 A=0.2737
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.836 A=0.164
Northern Sweden ACPOP Study-wide 600 G=0.795 A=0.205
Qatari Global Study-wide 216 G=0.884 A=0.116
A Vietnamese Genetic Variation Database Global Study-wide 216 G=0.583 A=0.417
SGDP_PRJ Global Study-wide 212 G=0.401 A=0.599
The Danish reference pan genome Danish Study-wide 40 G=0.88 A=0.12
Siberian Global Study-wide 26 G=0.46 A=0.54
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 6 NC_000006.12:g.30165626G>A
GRCh37.p13 chr 6 NC_000006.11:g.30133403G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.1645424G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.1645530G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.1420754G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.1426350G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.1421527G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.1427112G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.1464557G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.1463855G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.1476328G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.1481948G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.1509699G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.1515284G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.2:g.1423706G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.1:g.1373622G>A
Gene: TRIM15, tripartite motif containing 15 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TRIM15 transcript NM_033229.3:c.382-1550G>A N/A Intron Variant
TRIM15 transcript variant X1 XM_011514987.2:c.67-1550G…

XM_011514987.2:c.67-1550G>A

 		N/A Intron Variant
TRIM15 transcript variant X3 XM_047419503.1:c.382-1550…

XM_047419503.1:c.382-1550G>A

 		N/A Intron Variant
TRIM15 transcript variant X2 XM_011514988.3:c. N/A Genic Upstream Transcript Variant
Gene: TRIM10, tripartite motif containing 10 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
TRIM10 transcript variant 1 NM_006778.4:c. N/A N/A
TRIM10 transcript variant 2 NM_052828.3:c. N/A N/A
TRIM10 transcript variant X5 XM_047418051.1:c. N/A Upstream Transcript Variant
TRIM10 transcript variant X6 XM_047418052.1:c. N/A Upstream Transcript Variant
TRIM10 transcript variant X4 XM_011514221.2:c. N/A N/A
TRIM10 transcript variant X1 XM_011514222.3:c. N/A N/A
TRIM10 transcript variant X2 XM_011514223.3:c. N/A N/A
TRIM10 transcript variant X3 XM_047418053.1:c. N/A N/A
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
GRCh38.p14 chr 6 NC_000006.12:g.30165626= NC_000006.12:g.30165626G>A
GRCh37.p13 chr 6 NC_000006.11:g.30133403= NC_000006.11:g.30133403G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.1645424= NT_113891.3:g.1645424G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.1645530= NT_113891.2:g.1645530G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.1420754= NT_167248.2:g.1420754G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.1426350= NT_167248.1:g.1426350G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.1421527= NT_167245.2:g.1421527G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.1427112= NT_167245.1:g.1427112G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.1464557= NT_167249.2:g.1464557G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.1463855= NT_167249.1:g.1463855G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.1476328= NT_167246.2:g.1476328G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.1481948= NT_167246.1:g.1481948G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.1509699= NT_167247.2:g.1509699G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.1515284= NT_167247.1:g.1515284G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.2:g.1423706= NT_167244.2:g.1423706G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.1:g.1373622= NT_167244.1:g.1373622G>A
TRIM15 transcript NM_033229.2:c.382-1550= NM_033229.2:c.382-1550G>A
TRIM15 transcript NM_033229.3:c.382-1550= NM_033229.3:c.382-1550G>A
TRIM15 transcript variant X1 XM_005249471.1:c.382-1550= XM_005249471.1:c.382-1550G>A
TRIM15 transcript variant X1 XM_005272907.1:c.382-1550= XM_005272907.1:c.382-1550G>A
TRIM15 transcript variant X1 XM_005274898.1:c.382-1550= XM_005274898.1:c.382-1550G>A
TRIM15 transcript variant X1 XM_005275063.1:c.382-1550= XM_005275063.1:c.382-1550G>A
TRIM15 transcript variant X1 XM_005275195.1:c.382-1550= XM_005275195.1:c.382-1550G>A
TRIM15 transcript variant X1 XM_005275319.1:c.382-1550= XM_005275319.1:c.382-1550G>A
TRIM15 transcript variant X1 XM_005275490.1:c.382-1550= XM_005275490.1:c.382-1550G>A
TRIM15 transcript variant X1 XM_005275628.1:c.382-1550= XM_005275628.1:c.382-1550G>A
TRIM15 transcript variant X1 XM_011514987.2:c.67-1550= XM_011514987.2:c.67-1550G>A
TRIM15 transcript variant X3 XM_047419503.1:c.382-1550= XM_047419503.1:c.382-1550G>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#.

51 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss11254430 Jul 11, 2003 (126)
2 SC_SNP ss12837875 Dec 05, 2003 (126)
3 SC_SNP ss12889525 Dec 05, 2003 (126)
4 BCMHGSC_JDW ss93432744 Mar 24, 2008 (129)
5 GMI ss278714455 May 04, 2012 (137)
6 GMI ss285368799 Apr 25, 2013 (138)
7 PJP ss293820370 May 09, 2011 (137)
8 1000GENOMES ss333175854 May 09, 2011 (137)
9 TISHKOFF ss559101845 Apr 25, 2013 (138)
10 SSMP ss653019007 Apr 25, 2013 (138)
11 EVA-GONL ss982744513 Aug 21, 2014 (142)
12 JMKIDD_LAB ss1073492766 Aug 21, 2014 (142)
13 1000GENOMES ss1319512515 Aug 21, 2014 (142)
14 EVA_GENOME_DK ss1581596327 Apr 01, 2015 (144)
15 EVA_DECODE ss1592291891 Apr 01, 2015 (144)
16 EVA_UK10K_ALSPAC ss1615251172 Apr 01, 2015 (144)
17 EVA_UK10K_TWINSUK ss1658245205 Apr 01, 2015 (144)
18 WEILL_CORNELL_DGM ss1925996695 Feb 12, 2016 (147)
19 JJLAB ss2023626746 Sep 14, 2016 (149)
20 USC_VALOUEV ss2151792033 Nov 08, 2017 (151)
21 HUMAN_LONGEVITY ss2282873032 Dec 20, 2016 (150)
22 SYSTEMSBIOZJU ss2626299437 Nov 08, 2017 (151)
23 GRF ss2707384096 Nov 08, 2017 (151)
24 GNOMAD ss2837313679 Nov 08, 2017 (151)
25 SWEGEN ss2998765693 Nov 08, 2017 (151)
26 BIOINF_KMB_FNS_UNIBA ss3645942357 Oct 12, 2018 (152)
27 EGCUT_WGS ss3666688140 Jul 13, 2019 (153)
28 EVA_DECODE ss3716876086 Jul 13, 2019 (153)
29 ACPOP ss3733340536 Jul 13, 2019 (153)
30 EVA ss3764799253 Jul 13, 2019 (153)
31 KHV_HUMAN_GENOMES ss3807954810 Jul 13, 2019 (153)
32 EVA ss3829817435 Apr 26, 2020 (154)
33 EVA ss3838385903 Apr 26, 2020 (154)
34 EVA ss3843827226 Apr 26, 2020 (154)
35 SGDP_PRJ ss3864220332 Apr 26, 2020 (154)
36 KRGDB ss3910995004 Apr 26, 2020 (154)
37 VINODS ss4025169886 Apr 26, 2021 (155)
38 VINODS ss4025180529 Apr 26, 2021 (155)
39 VINODS ss4025222615 Apr 26, 2021 (155)
40 TOPMED ss4698103281 Apr 26, 2021 (155)
41 TOMMO_GENOMICS ss5176782056 Apr 26, 2021 (155)
42 1000G_HIGH_COVERAGE ss5267893319 Oct 13, 2022 (156)
43 HUGCELL_USP ss5465634681 Oct 13, 2022 (156)
44 1000G_HIGH_COVERAGE ss5553537226 Oct 13, 2022 (156)
45 SANFORD_IMAGENETICS ss5640057997 Oct 13, 2022 (156)
46 TOMMO_GENOMICS ss5714621520 Oct 13, 2022 (156)
47 YY_MCH ss5807285726 Oct 13, 2022 (156)
48 EVA ss5842000583 Oct 13, 2022 (156)
49 EVA ss5855271279 Oct 13, 2022 (156)
50 EVA ss5883200444 Oct 13, 2022 (156)
51 EVA ss5968561376 Oct 13, 2022 (156)
52 1000Genomes NC_000006.11 - 30133403 Oct 12, 2018 (152)
53 1000Genomes_30x NC_000006.12 - 30165626 Oct 13, 2022 (156)
54 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 30133403 Oct 12, 2018 (152)
55 Genetic variation in the Estonian population NC_000006.11 - 30133403 Oct 12, 2018 (152)
56 The Danish reference pan genome NC_000006.11 - 30133403 Apr 26, 2020 (154)
57 gnomAD - Genomes NC_000006.12 - 30165626 Apr 26, 2021 (155)
58 Genome of the Netherlands Release 5 NC_000006.11 - 30133403 Apr 26, 2020 (154)
59 KOREAN population from KRGDB NC_000006.11 - 30133403 Apr 26, 2020 (154)
60 Northern Sweden NC_000006.11 - 30133403 Jul 13, 2019 (153)
61 Qatari NC_000006.11 - 30133403 Apr 26, 2020 (154)
62 SGDP_PRJ NC_000006.11 - 30133403 Apr 26, 2020 (154)
63 Siberian NC_000006.11 - 30133403 Apr 26, 2020 (154)
64 8.3KJPN NC_000006.11 - 30133403 Apr 26, 2021 (155)
65 14KJPN NC_000006.12 - 30165626 Oct 13, 2022 (156)
66 TopMed NC_000006.12 - 30165626 Apr 26, 2021 (155)
67 UK 10K study - Twins NC_000006.11 - 30133403 Oct 12, 2018 (152)
68 A Vietnamese Genetic Variation Database NC_000006.11 - 30133403 Jul 13, 2019 (153)
69 ALFA NC_000006.12 - 30165626 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)
rs7451590 Mar 10, 2006 (126)
rs138636928 May 04, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss93432744, ss278714455, ss285368799, ss293820370, ss1592291891 NC_000006.10:30241381:G:A NC_000006.12:30165625:G:A (self)
31277932, 17437617, 12426388, 7761266, 7744572, 18172398, 6625401, 8038625, 16237312, 4308387, 34751363, 17437617, 3863304, ss333175854, ss559101845, ss653019007, ss982744513, ss1073492766, ss1319512515, ss1581596327, ss1615251172, ss1658245205, ss1925996695, ss2023626746, ss2151792033, ss2626299437, ss2707384096, ss2837313679, ss2998765693, ss3666688140, ss3733340536, ss3764799253, ss3829817435, ss3838385903, ss3864220332, ss3910995004, ss5176782056, ss5640057997, ss5842000583, ss5968561376 NC_000006.11:30133402:G:A NC_000006.12:30165625:G:A (self)
41063161, 220951297, 48458624, 535480839, 10490344365, ss2282873032, ss3645942357, ss3716876086, ss3807954810, ss3843827226, ss4698103281, ss5267893319, ss5465634681, ss5553537226, ss5714621520, ss5807285726, ss5855271279, ss5883200444 NC_000006.12:30165625:G:A NC_000006.12:30165625:G:A (self)
ss11254430, ss12837875 NT_007592.13:20989876:G:A NC_000006.12:30165625:G:A (self)
ss12889525 NT_033951.3:1582036:G:A NC_000006.12:30165625:G:A (self)
ss4025180529 NT_113891.3:1645423:G:A NC_000006.12:30165625:G:A (self)
ss4025169886 NT_167244.2:1423705:G:A NC_000006.12:30165625:G:A (self)
ss4025222615 NT_167246.2:1476327:G:A NC_000006.12:30165625:G:A (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 rs4282437

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