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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.

rs16907201

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:91165631 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.120590 (31919/264690, TOPMED)
G=0.121784 (24975/205076, GENOGRAPHIC)
G=0.114343 (16030/140192, GnomAD) (+ 20 more)
G=0.124338 (15965/128400, ALFA)
G=0.06501 (1837/28258, 14KJPN)
G=0.06712 (1125/16760, 8.3KJPN)
G=0.1116 (715/6404, 1000G_30x)
G=0.1082 (542/5008, 1000G)
G=0.1141 (511/4480, Estonian)
G=0.1261 (486/3854, ALSPAC)
G=0.1122 (416/3708, TWINSUK)
G=0.0513 (150/2922, KOREAN)
G=0.0893 (169/1892, HapMap)
G=0.0519 (95/1832, Korea1K)
G=0.150 (150/998, GoNL)
G=0.265 (166/626, Chileans)
G=0.112 (67/600, NorthernSweden)
G=0.185 (40/216, Qatari)
G=0.014 (3/214, Vietnamese)
A=0.46 (46/100, SGDP_PRJ)
G=0.03 (1/40, GENOME_DK)
A=0.5 (3/6, Siberian)
G=0.5 (3/6, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LINC00484 : 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 128494 A=0.875652 G=0.124348
European Sub 112020 A=0.876995 G=0.123005
African Sub 6854 A=0.9101 G=0.0899
African Others Sub 238 A=0.924 G=0.076
African American Sub 6616 A=0.9096 G=0.0904
Asian Sub 344 A=0.959 G=0.041
East Asian Sub 220 A=0.955 G=0.045
Other Asian Sub 124 A=0.968 G=0.032
Latin American 1 Sub 456 A=0.868 G=0.132
Latin American 2 Sub 4144 A=0.7983 G=0.2017
South Asian Sub 132 A=0.833 G=0.167
Other Sub 4544 A=0.8567 G=0.1433


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 A=0.879410 G=0.120590
Genographic Project Global Study-wide 205076 A=0.878216 G=0.121784
gnomAD - Genomes Global Study-wide 140192 A=0.885657 G=0.114343
gnomAD - Genomes European Sub 75918 A=0.88868 G=0.11132
gnomAD - Genomes African Sub 42016 A=0.90704 G=0.09296
gnomAD - Genomes American Sub 13654 A=0.79017 G=0.20983
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.8645 G=0.1355
gnomAD - Genomes East Asian Sub 3130 A=0.9709 G=0.0291
gnomAD - Genomes Other Sub 2152 A=0.8759 G=0.1241
Allele Frequency Aggregator Total Global 128400 A=0.875662 G=0.124338
Allele Frequency Aggregator European Sub 111944 A=0.877001 G=0.122999
Allele Frequency Aggregator African Sub 6854 A=0.9101 G=0.0899
Allele Frequency Aggregator Other Sub 4526 A=0.8568 G=0.1432
Allele Frequency Aggregator Latin American 2 Sub 4144 A=0.7983 G=0.2017
Allele Frequency Aggregator Latin American 1 Sub 456 A=0.868 G=0.132
Allele Frequency Aggregator Asian Sub 344 A=0.959 G=0.041
Allele Frequency Aggregator South Asian Sub 132 A=0.833 G=0.167
14KJPN JAPANESE Study-wide 28258 A=0.93499 G=0.06501
8.3KJPN JAPANESE Study-wide 16760 A=0.93288 G=0.06712
1000Genomes_30x Global Study-wide 6404 A=0.8884 G=0.1116
1000Genomes_30x African Sub 1786 A=0.9183 G=0.0817
1000Genomes_30x Europe Sub 1266 A=0.8863 G=0.1137
1000Genomes_30x South Asian Sub 1202 A=0.8561 G=0.1439
1000Genomes_30x East Asian Sub 1170 A=0.9641 G=0.0359
1000Genomes_30x American Sub 980 A=0.786 G=0.214
1000Genomes Global Study-wide 5008 A=0.8918 G=0.1082
1000Genomes African Sub 1322 A=0.9213 G=0.0787
1000Genomes East Asian Sub 1008 A=0.9613 G=0.0387
1000Genomes Europe Sub 1006 A=0.8917 G=0.1083
1000Genomes South Asian Sub 978 A=0.857 G=0.143
1000Genomes American Sub 694 A=0.784 G=0.216
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.8859 G=0.1141
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.8739 G=0.1261
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.8878 G=0.1122
KOREAN population from KRGDB KOREAN Study-wide 2922 A=0.9487 G=0.0513
HapMap Global Study-wide 1892 A=0.9107 G=0.0893
HapMap American Sub 770 A=0.886 G=0.114
HapMap African Sub 692 A=0.925 G=0.075
HapMap Asian Sub 254 A=0.957 G=0.043
HapMap Europe Sub 176 A=0.898 G=0.102
Korean Genome Project KOREAN Study-wide 1832 A=0.9481 G=0.0519
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.850 G=0.150
Chileans Chilean Study-wide 626 A=0.735 G=0.265
Northern Sweden ACPOP Study-wide 600 A=0.888 G=0.112
Qatari Global Study-wide 216 A=0.815 G=0.185
A Vietnamese Genetic Variation Database Global Study-wide 214 A=0.986 G=0.014
SGDP_PRJ Global Study-wide 100 A=0.46 G=0.54
The Danish reference pan genome Danish Study-wide 40 A=0.97 G=0.03
Siberian Global Study-wide 6 A=0.5 G=0.5
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 9 NC_000009.12:g.91165631A>G
GRCh37.p13 chr 9 NC_000009.11:g.93927913A>G
Gene: LINC00484, long intergenic non-protein coding RNA 484 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LINC00484 transcript NR_135306.1:n. 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 A= G
GRCh38.p14 chr 9 NC_000009.12:g.91165631= NC_000009.12:g.91165631A>G
GRCh37.p13 chr 9 NC_000009.11:g.93927913= NC_000009.11:g.93927913A>G
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#.

94 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 PERLEGEN ss23456236 Sep 20, 2004 (123)
2 ABI ss43340212 Mar 14, 2006 (126)
3 PERLEGEN ss69295817 May 17, 2007 (127)
4 AFFY ss76662873 Dec 07, 2007 (129)
5 BCMHGSC_JDW ss94104518 Mar 25, 2008 (129)
6 KRIBB_YJKIM ss105082718 Feb 06, 2009 (130)
7 1000GENOMES ss108901117 Jan 23, 2009 (130)
8 ILLUMINA-UK ss115759461 Dec 01, 2009 (131)
9 ENSEMBL ss134051062 Dec 01, 2009 (131)
10 ENSEMBL ss144242553 Dec 01, 2009 (131)
11 COMPLETE_GENOMICS ss166681532 Jul 04, 2010 (132)
12 1000GENOMES ss224332463 Jul 14, 2010 (132)
13 1000GENOMES ss234880699 Jul 15, 2010 (132)
14 GMI ss280308004 May 04, 2012 (137)
15 PJP ss294315319 May 09, 2011 (134)
16 ILLUMINA ss480099466 May 04, 2012 (137)
17 ILLUMINA ss480108318 May 04, 2012 (137)
18 ILLUMINA ss484847577 May 04, 2012 (137)
19 ILLUMINA ss536917665 Sep 08, 2015 (146)
20 TISHKOFF ss561485569 Apr 25, 2013 (138)
21 SSMP ss655978476 Apr 25, 2013 (138)
22 ILLUMINA ss778820143 Aug 21, 2014 (142)
23 ILLUMINA ss782870324 Aug 21, 2014 (142)
24 ILLUMINA ss783834409 Aug 21, 2014 (142)
25 ILLUMINA ss832124485 Apr 01, 2015 (144)
26 ILLUMINA ss834280479 Aug 21, 2014 (142)
27 EVA-GONL ss986737070 Aug 21, 2014 (142)
28 JMKIDD_LAB ss1076429016 Aug 21, 2014 (142)
29 1000GENOMES ss1334543688 Aug 21, 2014 (142)
30 DDI ss1431891904 Apr 01, 2015 (144)
31 EVA_GENOME_DK ss1583164962 Apr 01, 2015 (144)
32 EVA_DECODE ss1596371974 Apr 01, 2015 (144)
33 EVA_UK10K_ALSPAC ss1623073565 Apr 01, 2015 (144)
34 EVA_UK10K_TWINSUK ss1666067598 Apr 01, 2015 (144)
35 EVA_SVP ss1713121933 Apr 01, 2015 (144)
36 ILLUMINA ss1752788948 Sep 08, 2015 (146)
37 HAMMER_LAB ss1806056808 Sep 08, 2015 (146)
38 WEILL_CORNELL_DGM ss1930050653 Feb 12, 2016 (147)
39 GENOMED ss1971253709 Jul 19, 2016 (147)
40 JJLAB ss2025743934 Sep 14, 2016 (149)
41 ILLUMINA ss2095222967 Dec 20, 2016 (150)
42 USC_VALOUEV ss2153969287 Dec 20, 2016 (150)
43 HUMAN_LONGEVITY ss2312568618 Dec 20, 2016 (150)
44 ILLUMINA ss2634887609 Nov 08, 2017 (151)
45 GRF ss2709839280 Nov 08, 2017 (151)
46 GNOMAD ss2880619305 Nov 08, 2017 (151)
47 AFFY ss2985466094 Nov 08, 2017 (151)
48 AFFY ss2986112881 Nov 08, 2017 (151)
49 SWEGEN ss3005217649 Nov 08, 2017 (151)
50 BIOINF_KMB_FNS_UNIBA ss3026653121 Nov 08, 2017 (151)
51 CSHL ss3348751400 Nov 08, 2017 (151)
52 ILLUMINA ss3630301776 Oct 12, 2018 (152)
53 ILLUMINA ss3632778671 Oct 12, 2018 (152)
54 ILLUMINA ss3633539876 Oct 12, 2018 (152)
55 ILLUMINA ss3634268385 Oct 12, 2018 (152)
56 ILLUMINA ss3635221008 Oct 12, 2018 (152)
57 ILLUMINA ss3635946244 Oct 12, 2018 (152)
58 ILLUMINA ss3637699587 Oct 12, 2018 (152)
59 ILLUMINA ss3640928299 Oct 12, 2018 (152)
60 URBANLAB ss3649192288 Oct 12, 2018 (152)
61 ILLUMINA ss3653495653 Oct 12, 2018 (152)
62 ILLUMINA ss3654230723 Oct 12, 2018 (152)
63 EGCUT_WGS ss3672758840 Jul 13, 2019 (153)
64 EVA_DECODE ss3724301781 Jul 13, 2019 (153)
65 ACPOP ss3736675136 Jul 13, 2019 (153)
66 ILLUMINA ss3745520922 Jul 13, 2019 (153)
67 EVA ss3769403366 Jul 13, 2019 (153)
68 ILLUMINA ss3773012875 Jul 13, 2019 (153)
69 PACBIO ss3786462885 Jul 13, 2019 (153)
70 PACBIO ss3791672418 Jul 13, 2019 (153)
71 PACBIO ss3796553837 Jul 13, 2019 (153)
72 KHV_HUMAN_GENOMES ss3812572564 Jul 13, 2019 (153)
73 EVA ss3831741510 Apr 26, 2020 (154)
74 EVA ss3839399264 Apr 26, 2020 (154)
75 EVA ss3844862858 Apr 26, 2020 (154)
76 SGDP_PRJ ss3872595038 Apr 26, 2020 (154)
77 KRGDB ss3920411956 Apr 26, 2020 (154)
78 KOGIC ss3966284453 Apr 26, 2020 (154)
79 EVA ss4017446518 Apr 26, 2021 (155)
80 TOPMED ss4827590691 Apr 26, 2021 (155)
81 TOMMO_GENOMICS ss5194259055 Apr 26, 2021 (155)
82 1000G_HIGH_COVERAGE ss5281380742 Oct 16, 2022 (156)
83 GENOGRAPHIC ss5314534683 Oct 16, 2022 (156)
84 EVA ss5315415184 Oct 16, 2022 (156)
85 EVA ss5388795291 Oct 16, 2022 (156)
86 HUGCELL_USP ss5477330316 Oct 16, 2022 (156)
87 EVA ss5509765798 Oct 16, 2022 (156)
88 1000G_HIGH_COVERAGE ss5574038410 Oct 16, 2022 (156)
89 SANFORD_IMAGENETICS ss5647813766 Oct 16, 2022 (156)
90 TOMMO_GENOMICS ss5738482213 Oct 16, 2022 (156)
91 YY_MCH ss5810801803 Oct 16, 2022 (156)
92 EVA ss5829432003 Oct 16, 2022 (156)
93 EVA ss5917108593 Oct 16, 2022 (156)
94 EVA ss5977000466 Oct 16, 2022 (156)
95 1000Genomes NC_000009.11 - 93927913 Oct 12, 2018 (152)
96 1000Genomes_30x NC_000009.12 - 91165631 Oct 16, 2022 (156)
97 The Avon Longitudinal Study of Parents and Children NC_000009.11 - 93927913 Oct 12, 2018 (152)
98 Chileans NC_000009.11 - 93927913 Apr 26, 2020 (154)
99 Genetic variation in the Estonian population NC_000009.11 - 93927913 Oct 12, 2018 (152)
100 Genographic Project NC_000009.12 - 91165631 Oct 16, 2022 (156)
101 The Danish reference pan genome NC_000009.11 - 93927913 Apr 26, 2020 (154)
102 gnomAD - Genomes NC_000009.12 - 91165631 Apr 26, 2021 (155)
103 Genome of the Netherlands Release 5 NC_000009.11 - 93927913 Apr 26, 2020 (154)
104 HapMap NC_000009.12 - 91165631 Apr 26, 2020 (154)
105 KOREAN population from KRGDB NC_000009.11 - 93927913 Apr 26, 2020 (154)
106 Korean Genome Project NC_000009.12 - 91165631 Apr 26, 2020 (154)
107 Northern Sweden NC_000009.11 - 93927913 Jul 13, 2019 (153)
108 Qatari NC_000009.11 - 93927913 Apr 26, 2020 (154)
109 SGDP_PRJ NC_000009.11 - 93927913 Apr 26, 2020 (154)
110 Siberian NC_000009.11 - 93927913 Apr 26, 2020 (154)
111 8.3KJPN NC_000009.11 - 93927913 Apr 26, 2021 (155)
112 14KJPN NC_000009.12 - 91165631 Oct 16, 2022 (156)
113 TopMed NC_000009.12 - 91165631 Apr 26, 2021 (155)
114 UK 10K study - Twins NC_000009.11 - 93927913 Oct 12, 2018 (152)
115 A Vietnamese Genetic Variation Database NC_000009.11 - 93927913 Jul 13, 2019 (153)
116 ALFA NC_000009.12 - 91165631 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
ss94104518, ss108901117, ss115759461, ss166681532, ss280308004, ss294315319, ss480099466, ss1596371974, ss1713121933 NC_000009.10:92967733:A:G NC_000009.12:91165630:A:G (self)
46828271, 26010727, 464073, 18497088, 9329899, 11609275, 27589350, 9960001, 12092583, 24612018, 6485641, 52228362, 26010727, 5777955, ss224332463, ss234880699, ss480108318, ss484847577, ss536917665, ss561485569, ss655978476, ss778820143, ss782870324, ss783834409, ss832124485, ss834280479, ss986737070, ss1076429016, ss1334543688, ss1431891904, ss1583164962, ss1623073565, ss1666067598, ss1752788948, ss1806056808, ss1930050653, ss1971253709, ss2025743934, ss2095222967, ss2153969287, ss2634887609, ss2709839280, ss2880619305, ss2985466094, ss2986112881, ss3005217649, ss3348751400, ss3630301776, ss3632778671, ss3633539876, ss3634268385, ss3635221008, ss3635946244, ss3637699587, ss3640928299, ss3653495653, ss3654230723, ss3672758840, ss3736675136, ss3745520922, ss3769403366, ss3773012875, ss3786462885, ss3791672418, ss3796553837, ss3831741510, ss3839399264, ss3872595038, ss3920411956, ss4017446518, ss5194259055, ss5315415184, ss5388795291, ss5509765798, ss5647813766, ss5829432003, ss5977000466 NC_000009.11:93927912:A:G NC_000009.12:91165630:A:G (self)
61564345, 45179, 331054993, 3867203, 22662454, 72319317, 664968252, 4472523992, ss2312568618, ss3026653121, ss3649192288, ss3724301781, ss3812572564, ss3844862858, ss3966284453, ss4827590691, ss5281380742, ss5314534683, ss5477330316, ss5574038410, ss5738482213, ss5810801803, ss5917108593 NC_000009.12:91165630:A:G NC_000009.12:91165630:A:G (self)
ss23456236, ss43340212, ss69295817, ss76662873, ss105082718, ss134051062, ss144242553 NT_008470.19:23092444:A:G NC_000009.12:91165630:A:G (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 rs16907201

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