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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.

rs12450836

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:65196941 (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=0.218516 (57839/264690, TOPMED)
A=0.104442 (15150/145056, ALFA)
A=0.192163 (26917/140074, GnomAD) (+ 19 more)
A=0.26573 (7509/28258, 14KJPN)
A=0.26539 (4448/16760, 8.3KJPN)
A=0.2854 (1828/6404, 1000G_30x)
A=0.2810 (1407/5008, 1000G)
A=0.0569 (255/4480, Estonian)
A=0.0605 (233/3854, ALSPAC)
A=0.0650 (241/3708, TWINSUK)
A=0.2846 (834/2930, KOREAN)
A=0.3002 (550/1832, Korea1K)
A=0.1188 (135/1136, Daghestan)
A=0.057 (57/998, GoNL)
A=0.052 (31/600, NorthernSweden)
A=0.011 (6/534, MGP)
A=0.278 (90/324, HapMap)
G=0.347 (82/236, SGDP_PRJ)
A=0.120 (26/216, Qatari)
A=0.325 (69/212, Vietnamese)
A=0.10 (4/40, GENOME_DK)
G=0.36 (5/14, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RGS9 : 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 145056 G=0.895558 A=0.104442
European Sub 122872 G=0.931490 A=0.068510
African Sub 8164 G=0.6047 A=0.3953
African Others Sub 292 G=0.572 A=0.428
African American Sub 7872 G=0.6059 A=0.3941
Asian Sub 624 G=0.697 A=0.303
East Asian Sub 492 G=0.707 A=0.293
Other Asian Sub 132 G=0.659 A=0.341
Latin American 1 Sub 738 G=0.798 A=0.202
Latin American 2 Sub 6274 G=0.6368 A=0.3632
South Asian Sub 186 G=0.860 A=0.140
Other Sub 6198 G=0.8609 A=0.1391


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=0.781484 A=0.218516
Allele Frequency Aggregator Total Global 145056 G=0.895558 A=0.104442
Allele Frequency Aggregator European Sub 122872 G=0.931490 A=0.068510
Allele Frequency Aggregator African Sub 8164 G=0.6047 A=0.3953
Allele Frequency Aggregator Latin American 2 Sub 6274 G=0.6368 A=0.3632
Allele Frequency Aggregator Other Sub 6198 G=0.8609 A=0.1391
Allele Frequency Aggregator Latin American 1 Sub 738 G=0.798 A=0.202
Allele Frequency Aggregator Asian Sub 624 G=0.697 A=0.303
Allele Frequency Aggregator South Asian Sub 186 G=0.860 A=0.140
gnomAD - Genomes Global Study-wide 140074 G=0.807837 A=0.192163
gnomAD - Genomes European Sub 75908 G=0.93484 A=0.06516
gnomAD - Genomes African Sub 41924 G=0.60717 A=0.39283
gnomAD - Genomes American Sub 13636 G=0.71355 A=0.28645
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.9527 A=0.0473
gnomAD - Genomes East Asian Sub 3130 G=0.6671 A=0.3329
gnomAD - Genomes Other Sub 2154 G=0.8157 A=0.1843
14KJPN JAPANESE Study-wide 28258 G=0.73427 A=0.26573
8.3KJPN JAPANESE Study-wide 16760 G=0.73461 A=0.26539
1000Genomes_30x Global Study-wide 6404 G=0.7146 A=0.2854
1000Genomes_30x African Sub 1786 G=0.5414 A=0.4586
1000Genomes_30x Europe Sub 1266 G=0.9313 A=0.0687
1000Genomes_30x South Asian Sub 1202 G=0.8594 A=0.1406
1000Genomes_30x East Asian Sub 1170 G=0.6795 A=0.3205
1000Genomes_30x American Sub 980 G=0.614 A=0.386
1000Genomes Global Study-wide 5008 G=0.7190 A=0.2810
1000Genomes African Sub 1322 G=0.5356 A=0.4644
1000Genomes East Asian Sub 1008 G=0.6776 A=0.3224
1000Genomes Europe Sub 1006 G=0.9294 A=0.0706
1000Genomes South Asian Sub 978 G=0.852 A=0.148
1000Genomes American Sub 694 G=0.637 A=0.363
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9431 A=0.0569
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9395 A=0.0605
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9350 A=0.0650
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.7154 A=0.2846
Korean Genome Project KOREAN Study-wide 1832 G=0.6998 A=0.3002
Genome-wide autozygosity in Daghestan Global Study-wide 1136 G=0.8812 A=0.1188
Genome-wide autozygosity in Daghestan Daghestan Sub 628 G=0.889 A=0.111
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=0.868 A=0.132
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.852 A=0.148
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.898 A=0.102
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.89 A=0.11
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.83 A=0.17
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.943 A=0.057
Northern Sweden ACPOP Study-wide 600 G=0.948 A=0.052
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.989 A=0.011
HapMap Global Study-wide 324 G=0.722 A=0.278
HapMap African Sub 120 G=0.567 A=0.433
HapMap American Sub 118 G=0.924 A=0.076
HapMap Asian Sub 86 G=0.66 A=0.34
SGDP_PRJ Global Study-wide 236 G=0.347 A=0.653
Qatari Global Study-wide 216 G=0.880 A=0.120
A Vietnamese Genetic Variation Database Global Study-wide 212 G=0.675 A=0.325
The Danish reference pan genome Danish Study-wide 40 G=0.90 A=0.10
Siberian Global Study-wide 14 G=0.36 A=0.64
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 17 NC_000017.11:g.65196941G>A
GRCh37.p13 chr 17 NC_000017.10:g.63193059G>A
RGS9 RefSeqGene NG_013021.2:g.64604G>A
Gene: RGS9, regulator of G protein signaling 9 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RGS9 transcript variant 2 NM_001081955.3:c.852-185G…

NM_001081955.3:c.852-185G>A

 		N/A Intron Variant
RGS9 transcript variant 3 NM_001165933.2:c.852-185G…

NM_001165933.2:c.852-185G>A

 		N/A Intron Variant
RGS9 transcript variant 1 NM_003835.4:c.861-185G>A N/A Intron 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
GRCh38.p14 chr 17 NC_000017.11:g.65196941= NC_000017.11:g.65196941G>A
GRCh37.p13 chr 17 NC_000017.10:g.63193059= NC_000017.10:g.63193059G>A
RGS9 RefSeqGene NG_013021.2:g.64604= NG_013021.2:g.64604G>A
RGS9 transcript variant 2 NM_001081955.2:c.852-185= NM_001081955.2:c.852-185G>A
RGS9 transcript variant 2 NM_001081955.3:c.852-185= NM_001081955.3:c.852-185G>A
RGS9 transcript variant 3 NM_001165933.1:c.852-185= NM_001165933.1:c.852-185G>A
RGS9 transcript variant 3 NM_001165933.2:c.852-185= NM_001165933.2:c.852-185G>A
RGS9 transcript variant 1 NM_003835.3:c.861-185= NM_003835.3:c.861-185G>A
RGS9 transcript variant 1 NM_003835.4:c.861-185= NM_003835.4:c.861-185G>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#.

88 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss19361845 Feb 28, 2004 (120)
2 ABI ss43982292 Mar 14, 2006 (126)
3 BGI ss103356350 Dec 01, 2009 (131)
4 1000GENOMES ss113726547 Jan 25, 2009 (130)
5 ILLUMINA-UK ss118101091 Feb 14, 2009 (130)
6 GMI ss154540173 Dec 01, 2009 (131)
7 ILLUMINA ss160272052 Dec 01, 2009 (131)
8 ENSEMBL ss161836650 Dec 01, 2009 (131)
9 COMPLETE_GENOMICS ss170004957 Jul 04, 2010 (132)
10 BUSHMAN ss202690122 Jul 04, 2010 (132)
11 1000GENOMES ss227616713 Jul 14, 2010 (132)
12 1000GENOMES ss237293960 Jul 15, 2010 (132)
13 1000GENOMES ss243578217 Jul 15, 2010 (132)
14 GMI ss282814138 May 04, 2012 (137)
15 ILLUMINA ss479742478 May 04, 2012 (137)
16 ILLUMINA ss479748310 May 04, 2012 (137)
17 ILLUMINA ss480304787 Sep 08, 2015 (146)
18 ILLUMINA ss484669534 May 04, 2012 (137)
19 ILLUMINA ss536782923 Sep 08, 2015 (146)
20 TISHKOFF ss565359123 Apr 25, 2013 (138)
21 SSMP ss661170534 Apr 25, 2013 (138)
22 ILLUMINA ss778407324 Sep 08, 2015 (146)
23 ILLUMINA ss782781626 Sep 08, 2015 (146)
24 ILLUMINA ss783747559 Sep 08, 2015 (146)
25 ILLUMINA ss832034211 Sep 08, 2015 (146)
26 ILLUMINA ss833862563 Sep 08, 2015 (146)
27 EVA-GONL ss993257229 Aug 21, 2014 (142)
28 JMKIDD_LAB ss1081159750 Aug 21, 2014 (142)
29 1000GENOMES ss1359250181 Aug 21, 2014 (142)
30 HAMMER_LAB ss1397733319 Sep 08, 2015 (146)
31 EVA_GENOME_DK ss1578213182 Apr 01, 2015 (144)
32 EVA_UK10K_ALSPAC ss1635951179 Apr 01, 2015 (144)
33 EVA_UK10K_TWINSUK ss1678945212 Apr 01, 2015 (144)
34 EVA_DECODE ss1697304891 Apr 01, 2015 (144)
35 EVA_MGP ss1711469586 Apr 01, 2015 (144)
36 ILLUMINA ss1752234894 Sep 08, 2015 (146)
37 HAMMER_LAB ss1808846239 Sep 08, 2015 (146)
38 WEILL_CORNELL_DGM ss1936717970 Feb 12, 2016 (147)
39 GENOMED ss1968418288 Jul 19, 2016 (147)
40 JJLAB ss2029130875 Sep 14, 2016 (149)
41 USC_VALOUEV ss2157612696 Dec 20, 2016 (150)
42 HUMAN_LONGEVITY ss2218032732 Dec 20, 2016 (150)
43 SYSTEMSBIOZJU ss2629059680 Nov 08, 2017 (151)
44 ILLUMINA ss2633414026 Nov 08, 2017 (151)
45 GRF ss2702175663 Nov 08, 2017 (151)
46 GNOMAD ss2951639753 Nov 08, 2017 (151)
47 SWEGEN ss3015782242 Nov 08, 2017 (151)
48 BIOINF_KMB_FNS_UNIBA ss3028387163 Nov 08, 2017 (151)
49 CSHL ss3351804887 Nov 08, 2017 (151)
50 ILLUMINA ss3627703609 Oct 12, 2018 (152)
51 ILLUMINA ss3631394038 Oct 12, 2018 (152)
52 ILLUMINA ss3633146165 Oct 12, 2018 (152)
53 ILLUMINA ss3633853990 Oct 12, 2018 (152)
54 ILLUMINA ss3634683088 Oct 12, 2018 (152)
55 ILLUMINA ss3635541645 Oct 12, 2018 (152)
56 ILLUMINA ss3636372188 Oct 12, 2018 (152)
57 ILLUMINA ss3637293211 Oct 12, 2018 (152)
58 ILLUMINA ss3640390398 Oct 12, 2018 (152)
59 ILLUMINA ss3641082914 Oct 12, 2018 (152)
60 ILLUMINA ss3641378389 Oct 12, 2018 (152)
61 EGCUT_WGS ss3682649769 Jul 13, 2019 (153)
62 EVA_DECODE ss3700765335 Jul 13, 2019 (153)
63 ACPOP ss3742150196 Jul 13, 2019 (153)
64 ILLUMINA ss3744983346 Jul 13, 2019 (153)
65 EVA ss3754841356 Jul 13, 2019 (153)
66 ILLUMINA ss3772481107 Jul 13, 2019 (153)
67 KHV_HUMAN_GENOMES ss3820107417 Jul 13, 2019 (153)
68 EVA ss3834939175 Apr 27, 2020 (154)
69 SGDP_PRJ ss3886060206 Apr 27, 2020 (154)
70 KRGDB ss3935811348 Apr 27, 2020 (154)
71 KOGIC ss3979144485 Apr 27, 2020 (154)
72 EVA ss4017774748 Apr 26, 2021 (155)
73 TOPMED ss5041349857 Apr 26, 2021 (155)
74 TOMMO_GENOMICS ss5223134591 Apr 26, 2021 (155)
75 1000G_HIGH_COVERAGE ss5303671238 Oct 16, 2022 (156)
76 EVA ss5315896097 Oct 16, 2022 (156)
77 EVA ss5428555531 Oct 16, 2022 (156)
78 HUGCELL_USP ss5496658273 Oct 16, 2022 (156)
79 EVA ss5511807390 Oct 16, 2022 (156)
80 1000G_HIGH_COVERAGE ss5607654355 Oct 16, 2022 (156)
81 SANFORD_IMAGENETICS ss5660396759 Oct 16, 2022 (156)
82 TOMMO_GENOMICS ss5779574843 Oct 16, 2022 (156)
83 EVA ss5799979371 Oct 16, 2022 (156)
84 YY_MCH ss5816663811 Oct 16, 2022 (156)
85 EVA ss5834185056 Oct 16, 2022 (156)
86 EVA ss5851863415 Oct 16, 2022 (156)
87 EVA ss5914530571 Oct 16, 2022 (156)
88 EVA ss5951790999 Oct 16, 2022 (156)
89 1000Genomes NC_000017.10 - 63193059 Oct 12, 2018 (152)
90 1000Genomes_30x NC_000017.11 - 65196941 Oct 16, 2022 (156)
91 The Avon Longitudinal Study of Parents and Children NC_000017.10 - 63193059 Oct 12, 2018 (152)
92 Genome-wide autozygosity in Daghestan NC_000017.9 - 60623521 Apr 27, 2020 (154)
93 Genetic variation in the Estonian population NC_000017.10 - 63193059 Oct 12, 2018 (152)
94 The Danish reference pan genome NC_000017.10 - 63193059 Apr 27, 2020 (154)
95 gnomAD - Genomes NC_000017.11 - 65196941 Apr 26, 2021 (155)
96 Genome of the Netherlands Release 5 NC_000017.10 - 63193059 Apr 27, 2020 (154)
97 HapMap NC_000017.11 - 65196941 Apr 27, 2020 (154)
98 KOREAN population from KRGDB NC_000017.10 - 63193059 Apr 27, 2020 (154)
99 Korean Genome Project NC_000017.11 - 65196941 Apr 27, 2020 (154)
100 Medical Genome Project healthy controls from Spanish population NC_000017.10 - 63193059 Apr 27, 2020 (154)
101 Northern Sweden NC_000017.10 - 63193059 Jul 13, 2019 (153)
102 Qatari NC_000017.10 - 63193059 Apr 27, 2020 (154)
103 SGDP_PRJ NC_000017.10 - 63193059 Apr 27, 2020 (154)
104 Siberian NC_000017.10 - 63193059 Apr 27, 2020 (154)
105 8.3KJPN NC_000017.10 - 63193059 Apr 26, 2021 (155)
106 14KJPN NC_000017.11 - 65196941 Oct 16, 2022 (156)
107 TopMed NC_000017.11 - 65196941 Apr 26, 2021 (155)
108 UK 10K study - Twins NC_000017.10 - 63193059 Oct 12, 2018 (152)
109 A Vietnamese Genetic Variation Database NC_000017.10 - 63193059 Jul 13, 2019 (153)
110 ALFA NC_000017.11 - 65196941 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
203156, ss113726547, ss118101091, ss170004957, ss202690122, ss282814138, ss479742478, ss1397733319, ss1697304891 NC_000017.9:60623520:G:A NC_000017.11:65196940:G:A (self)
72515008, 40180417, 28388017, 4413253, 17902610, 42988742, 585346, 15435061, 18759892, 38077186, 10129050, 81103898, 40180417, 8882310, ss227616713, ss237293960, ss243578217, ss479748310, ss480304787, ss484669534, ss536782923, ss565359123, ss661170534, ss778407324, ss782781626, ss783747559, ss832034211, ss833862563, ss993257229, ss1081159750, ss1359250181, ss1578213182, ss1635951179, ss1678945212, ss1711469586, ss1752234894, ss1808846239, ss1936717970, ss1968418288, ss2029130875, ss2157612696, ss2629059680, ss2633414026, ss2702175663, ss2951639753, ss3015782242, ss3351804887, ss3627703609, ss3631394038, ss3633146165, ss3633853990, ss3634683088, ss3635541645, ss3636372188, ss3637293211, ss3640390398, ss3641082914, ss3641378389, ss3682649769, ss3742150196, ss3744983346, ss3754841356, ss3772481107, ss3834939175, ss3886060206, ss3935811348, ss4017774748, ss5223134591, ss5315896097, ss5428555531, ss5511807390, ss5660396759, ss5799979371, ss5834185056, ss5951790999 NC_000017.10:63193058:G:A NC_000017.11:65196940:G:A (self)
95180290, 511769749, 1513365, 35522486, 113411947, 256895519, 13359099677, ss2218032732, ss3028387163, ss3700765335, ss3820107417, ss3979144485, ss5041349857, ss5303671238, ss5496658273, ss5607654355, ss5779574843, ss5816663811, ss5851863415, ss5914530571 NC_000017.11:65196940:G:A NC_000017.11:65196940:G:A (self)
ss19361845 NT_010783.14:21921799:G:A NC_000017.11:65196940:G:A (self)
ss43982292, ss103356350, ss154540173, ss160272052, ss161836650 NT_010783.15:28467210:G:A NC_000017.11:65196940: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 rs12450836

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