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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.

rs4463475

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:88312619 (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=0.438989 (116196/264690, TOPMED)
G=0.434781 (60812/139868, GnomAD)
G=0.14845 (4195/28258, 14KJPN) (+ 17 more)
G=0.39800 (7168/18010, ALFA)
G=0.15024 (2518/16760, 8.3KJPN)
G=0.4339 (2779/6404, 1000G_30x)
G=0.4293 (2150/5008, 1000G)
G=0.3712 (1663/4480, Estonian)
G=0.2994 (1154/3854, ALSPAC)
G=0.3015 (1118/3708, TWINSUK)
G=0.1587 (465/2930, KOREAN)
G=0.1528 (280/1832, Korea1K)
G=0.303 (302/998, GoNL)
G=0.308 (185/600, NorthernSweden)
A=0.002 (1/534, MGP)
G=0.241 (103/428, SGDP_PRJ)
G=0.398 (86/216, Qatari)
G=0.231 (49/212, Vietnamese)
G=0.26 (14/54, Siberian)
G=0.38 (15/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MMP16 : 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 18010 G=0.39800 A=0.60200, C=0.00000, T=0.00000
European Sub 13688 G=0.33935 A=0.66065, C=0.00000, T=0.00000
African Sub 2666 G=0.7176 A=0.2824, C=0.0000, T=0.0000
African Others Sub 104 G=0.798 A=0.202, C=0.000, T=0.000
African American Sub 2562 G=0.7143 A=0.2857, C=0.0000, T=0.0000
Asian Sub 112 G=0.179 A=0.821, C=0.000, T=0.000
East Asian Sub 86 G=0.15 A=0.85, C=0.00, T=0.00
Other Asian Sub 26 G=0.27 A=0.73, C=0.00, T=0.00
Latin American 1 Sub 146 G=0.363 A=0.637, C=0.000, T=0.000
Latin American 2 Sub 610 G=0.338 A=0.662, C=0.000, T=0.000
South Asian Sub 98 G=0.50 A=0.50, C=0.00, T=0.00
Other Sub 690 G=0.409 A=0.591, C=0.000, T=0.000


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=0.438989 A=0.561011
gnomAD - Genomes Global Study-wide 139868 G=0.434781 A=0.565219
gnomAD - Genomes European Sub 75794 G=0.32375 A=0.67625
gnomAD - Genomes African Sub 41880 G=0.68106 A=0.31894
gnomAD - Genomes American Sub 13606 G=0.37969 A=0.62031
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.3459 A=0.6541
gnomAD - Genomes East Asian Sub 3118 G=0.1648 A=0.8352
gnomAD - Genomes Other Sub 2148 G=0.4292 A=0.5708
14KJPN JAPANESE Study-wide 28258 G=0.14845 A=0.85155
Allele Frequency Aggregator Total Global 18010 G=0.39800 A=0.60200, C=0.00000, T=0.00000
Allele Frequency Aggregator European Sub 13688 G=0.33935 A=0.66065, C=0.00000, T=0.00000
Allele Frequency Aggregator African Sub 2666 G=0.7176 A=0.2824, C=0.0000, T=0.0000
Allele Frequency Aggregator Other Sub 690 G=0.409 A=0.591, C=0.000, T=0.000
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.338 A=0.662, C=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=0.363 A=0.637, C=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 112 G=0.179 A=0.821, C=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 98 G=0.50 A=0.50, C=0.00, T=0.00
8.3KJPN JAPANESE Study-wide 16760 G=0.15024 A=0.84976
1000Genomes_30x Global Study-wide 6404 G=0.4339 A=0.5661
1000Genomes_30x African Sub 1786 G=0.7396 A=0.2604
1000Genomes_30x Europe Sub 1266 G=0.3136 A=0.6864
1000Genomes_30x South Asian Sub 1202 G=0.4285 A=0.5715
1000Genomes_30x East Asian Sub 1170 G=0.1812 A=0.8188
1000Genomes_30x American Sub 980 G=0.341 A=0.659
1000Genomes Global Study-wide 5008 G=0.4293 A=0.5707
1000Genomes African Sub 1322 G=0.7428 A=0.2572
1000Genomes East Asian Sub 1008 G=0.1746 A=0.8254
1000Genomes Europe Sub 1006 G=0.3250 A=0.6750
1000Genomes South Asian Sub 978 G=0.437 A=0.563
1000Genomes American Sub 694 G=0.343 A=0.657
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.3712 A=0.6288
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.2994 A=0.7006
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.3015 A=0.6985
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.1587 A=0.8413, C=0.0000, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 G=0.1528 A=0.8472
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.303 A=0.697
Northern Sweden ACPOP Study-wide 600 G=0.308 A=0.692
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.998 A=0.002
SGDP_PRJ Global Study-wide 428 G=0.241 A=0.759
Qatari Global Study-wide 216 G=0.398 A=0.602
A Vietnamese Genetic Variation Database Global Study-wide 212 G=0.231 A=0.769
Siberian Global Study-wide 54 G=0.26 A=0.74
The Danish reference pan genome Danish Study-wide 40 G=0.38 A=0.62
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 8 NC_000008.11:g.88312619G>A
GRCh38.p14 chr 8 NC_000008.11:g.88312619G>C
GRCh38.p14 chr 8 NC_000008.11:g.88312619G>T
GRCh37.p13 chr 8 NC_000008.10:g.89324848G>A
GRCh37.p13 chr 8 NC_000008.10:g.89324848G>C
GRCh37.p13 chr 8 NC_000008.10:g.89324848G>T
Gene: MMP16, matrix metallopeptidase 16 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
MMP16 transcript NM_005941.5:c.132+14456C>T N/A Intron Variant
MMP16 transcript variant X1 XM_024447154.2: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 C T
GRCh38.p14 chr 8 NC_000008.11:g.88312619= NC_000008.11:g.88312619G>A NC_000008.11:g.88312619G>C NC_000008.11:g.88312619G>T
GRCh37.p13 chr 8 NC_000008.10:g.89324848= NC_000008.10:g.89324848G>A NC_000008.10:g.89324848G>C NC_000008.10:g.89324848G>T
MMP16 transcript NM_005941.4:c.132+14456= NM_005941.4:c.132+14456C>T NM_005941.4:c.132+14456C>G NM_005941.4:c.132+14456C>A
MMP16 transcript NM_005941.5:c.132+14456= NM_005941.5:c.132+14456C>T NM_005941.5:c.132+14456C>G NM_005941.5:c.132+14456C>A
MMP16 transcript variant X1 XM_005250921.1:c.132+14456= XM_005250921.1:c.132+14456C>T XM_005250921.1:c.132+14456C>G XM_005250921.1:c.132+14456C>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#.

75 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss5994052 Feb 20, 2003 (111)
2 SSAHASNP ss22653794 Apr 05, 2004 (121)
3 EGP_SNPS ss37042928 May 24, 2005 (125)
4 ABI ss43315092 Mar 15, 2006 (126)
5 HGSV ss78501905 Dec 07, 2007 (129)
6 BCMHGSC_JDW ss93924553 Mar 25, 2008 (129)
7 HUMANGENOME_JCVI ss98091369 Feb 04, 2009 (130)
8 BGI ss105631606 Feb 04, 2009 (130)
9 1000GENOMES ss108195366 Jan 23, 2009 (130)
10 ENSEMBL ss133526104 Dec 01, 2009 (131)
11 ENSEMBL ss143619388 Dec 01, 2009 (131)
12 GMI ss156612006 Dec 01, 2009 (131)
13 COMPLETE_GENOMICS ss162576433 Jul 04, 2010 (132)
14 COMPLETE_GENOMICS ss166858328 Jul 04, 2010 (132)
15 BUSHMAN ss199448586 Jul 04, 2010 (132)
16 BCM-HGSC-SUB ss208529941 Jul 04, 2010 (132)
17 1000GENOMES ss223834478 Jul 14, 2010 (132)
18 1000GENOMES ss234528131 Jul 15, 2010 (132)
19 1000GENOMES ss241363996 Jul 15, 2010 (132)
20 BL ss254482458 May 09, 2011 (134)
21 GMI ss279902508 May 04, 2012 (137)
22 GMI ss285882297 Apr 25, 2013 (138)
23 PJP ss294124817 May 09, 2011 (134)
24 TISHKOFF ss560898925 Apr 25, 2013 (138)
25 SSMP ss655338366 Apr 25, 2013 (138)
26 EVA-GONL ss985773499 Aug 21, 2014 (142)
27 JMKIDD_LAB ss1075709676 Aug 21, 2014 (142)
28 1000GENOMES ss1330840835 Aug 21, 2014 (142)
29 DDI ss1431587219 Apr 01, 2015 (144)
30 EVA_GENOME_DK ss1582780382 Apr 01, 2015 (144)
31 EVA_DECODE ss1595378027 Apr 01, 2015 (144)
32 EVA_UK10K_ALSPAC ss1621155408 Apr 01, 2015 (144)
33 EVA_UK10K_TWINSUK ss1664149441 Apr 01, 2015 (144)
34 EVA_MGP ss1711205091 Apr 01, 2015 (144)
35 HAMMER_LAB ss1805641345 Sep 08, 2015 (146)
36 WEILL_CORNELL_DGM ss1929055418 Feb 12, 2016 (147)
37 GENOMED ss1971033011 Jul 19, 2016 (147)
38 JJLAB ss2025233081 Sep 14, 2016 (149)
39 USC_VALOUEV ss2153457296 Dec 20, 2016 (150)
40 HUMAN_LONGEVITY ss2305169701 Dec 20, 2016 (150)
41 SYSTEMSBIOZJU ss2627091865 Nov 08, 2017 (151)
42 GRF ss2709232844 Nov 08, 2017 (151)
43 GNOMAD ss2869615844 Nov 08, 2017 (151)
44 SWEGEN ss3003574653 Nov 08, 2017 (151)
45 BIOINF_KMB_FNS_UNIBA ss3026401299 Nov 08, 2017 (151)
46 CSHL ss3348289504 Nov 08, 2017 (151)
47 URBANLAB ss3648963283 Oct 12, 2018 (152)
48 EGCUT_WGS ss3671272120 Jul 13, 2019 (153)
49 EVA_DECODE ss3722489403 Jul 13, 2019 (153)
50 ACPOP ss3735873528 Jul 13, 2019 (153)
51 EVA ss3768291138 Jul 13, 2019 (153)
52 PACBIO ss3786208769 Jul 13, 2019 (153)
53 PACBIO ss3791453770 Jul 13, 2019 (153)
54 PACBIO ss3796335182 Jul 13, 2019 (153)
55 KHV_HUMAN_GENOMES ss3811453893 Jul 13, 2019 (153)
56 EVA ss3831282386 Apr 26, 2020 (154)
57 EVA ss3839148169 Apr 26, 2020 (154)
58 EVA ss3844608636 Apr 26, 2020 (154)
59 SGDP_PRJ ss3870437778 Apr 26, 2020 (154)
60 KRGDB ss3917988019 Apr 26, 2020 (154)
61 KOGIC ss3964331491 Apr 26, 2020 (154)
62 TOPMED ss4794796003 Apr 26, 2021 (155)
63 TOMMO_GENOMICS ss5189800776 Apr 26, 2021 (155)
64 1000G_HIGH_COVERAGE ss5278006145 Oct 16, 2022 (156)
65 EVA ss5382732610 Oct 16, 2022 (156)
66 HUGCELL_USP ss5474478511 Oct 16, 2022 (156)
67 EVA ss5509451133 Oct 16, 2022 (156)
68 1000G_HIGH_COVERAGE ss5568837160 Oct 16, 2022 (156)
69 SANFORD_IMAGENETICS ss5645878970 Oct 16, 2022 (156)
70 TOMMO_GENOMICS ss5732182783 Oct 16, 2022 (156)
71 YY_MCH ss5809913108 Oct 16, 2022 (156)
72 EVA ss5830864681 Oct 16, 2022 (156)
73 EVA ss5856467727 Oct 16, 2022 (156)
74 EVA ss5889951191 Oct 16, 2022 (156)
75 EVA ss5975106950 Oct 16, 2022 (156)
76 1000Genomes NC_000008.10 - 89324848 Oct 12, 2018 (152)
77 1000Genomes_30x NC_000008.11 - 88312619 Oct 16, 2022 (156)
78 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 89324848 Oct 12, 2018 (152)
79 Genetic variation in the Estonian population NC_000008.10 - 89324848 Oct 12, 2018 (152)
80 The Danish reference pan genome NC_000008.10 - 89324848 Apr 26, 2020 (154)
81 gnomAD - Genomes NC_000008.11 - 88312619 Apr 26, 2021 (155)
82 Genome of the Netherlands Release 5 NC_000008.10 - 89324848 Apr 26, 2020 (154)
83 KOREAN population from KRGDB NC_000008.10 - 89324848 Apr 26, 2020 (154)
84 Korean Genome Project NC_000008.11 - 88312619 Apr 26, 2020 (154)
85 Medical Genome Project healthy controls from Spanish population NC_000008.10 - 89324848 Apr 26, 2020 (154)
86 Northern Sweden NC_000008.10 - 89324848 Jul 13, 2019 (153)
87 Qatari NC_000008.10 - 89324848 Apr 26, 2020 (154)
88 SGDP_PRJ NC_000008.10 - 89324848 Apr 26, 2020 (154)
89 Siberian NC_000008.10 - 89324848 Apr 26, 2020 (154)
90 8.3KJPN NC_000008.10 - 89324848 Apr 26, 2021 (155)
91 14KJPN NC_000008.11 - 88312619 Oct 16, 2022 (156)
92 TopMed NC_000008.11 - 88312619 Apr 26, 2021 (155)
93 UK 10K study - Twins NC_000008.10 - 89324848 Oct 12, 2018 (152)
94 A Vietnamese Genetic Variation Database NC_000008.10 - 89324848 Jul 13, 2019 (153)
95 ALFA NC_000008.11 - 88312619 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78501905, ss93924553, ss108195366, ss162576433, ss166858328, ss199448586, ss208529941, ss254482458, ss279902508, ss285882297, ss294124817, ss1595378027 NC_000008.9:89393963:G:A NC_000008.11:88312618:G:A (self)
43000567, 23913381, 17010368, 8945320, 10675755, 25165413, 320851, 9158393, 11097348, 22454758, 5973650, 47770083, 23913381, 5318292, ss223834478, ss234528131, ss241363996, ss560898925, ss655338366, ss985773499, ss1075709676, ss1330840835, ss1431587219, ss1582780382, ss1621155408, ss1664149441, ss1711205091, ss1805641345, ss1929055418, ss1971033011, ss2025233081, ss2153457296, ss2627091865, ss2709232844, ss2869615844, ss3003574653, ss3348289504, ss3671272120, ss3735873528, ss3768291138, ss3786208769, ss3791453770, ss3796335182, ss3831282386, ss3839148169, ss3870437778, ss3917988019, ss5189800776, ss5382732610, ss5509451133, ss5645878970, ss5830864681, ss5975106950 NC_000008.10:89324847:G:A NC_000008.11:88312618:G:A (self)
56363095, 303269524, 20709492, 66019887, 632173563, 3929422994, ss2305169701, ss3026401299, ss3648963283, ss3722489403, ss3811453893, ss3844608636, ss3964331491, ss4794796003, ss5278006145, ss5474478511, ss5568837160, ss5732182783, ss5809913108, ss5856467727, ss5889951191 NC_000008.11:88312618:G:A NC_000008.11:88312618:G:A (self)
ss22653794 NT_008046.14:2542960:G:A NC_000008.11:88312618:G:A (self)
ss5994052, ss37042928, ss43315092, ss98091369, ss105631606, ss133526104, ss143619388, ss156612006 NT_008046.16:2598396:G:A NC_000008.11:88312618:G:A (self)
25165413, ss3917988019 NC_000008.10:89324847:G:C NC_000008.11:88312618:G:C (self)
3929422994 NC_000008.11:88312618:G:C NC_000008.11:88312618:G:C (self)
25165413, ss3917988019 NC_000008.10:89324847:G:T NC_000008.11:88312618:G:T (self)
3929422994 NC_000008.11:88312618:G:T NC_000008.11:88312618: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 rs4463475

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