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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.

rs1916345

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:172441134 (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>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.236424 (62579/264690, TOPMED)
A=0.230042 (32227/140092, GnomAD)
A=0.20558 (6245/30378, ALFA) (+ 18 more)
A=0.00262 (74/28258, 14KJPN)
A=0.00257 (43/16760, 8.3KJPN)
A=0.2205 (1412/6404, 1000G_30x)
A=0.2159 (1081/5008, 1000G)
A=0.1868 (837/4480, Estonian)
A=0.1718 (662/3854, ALSPAC)
A=0.1748 (648/3708, TWINSUK)
A=0.0003 (1/2930, KOREAN)
A=0.0016 (3/1832, Korea1K)
A=0.1920 (217/1130, Daghestan)
A=0.162 (162/998, GoNL)
A=0.132 (79/600, NorthernSweden)
A=0.098 (52/530, SGDP_PRJ)
A=0.296 (64/216, Qatari)
A=0.019 (4/212, Vietnamese)
A=0.271 (57/210, HapMap)
A=0.09 (5/56, Siberian)
A=0.17 (7/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
1 citation
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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 30378 A=0.20558 G=0.79442 0.048259 0.637106 0.314636 12
European Sub 24558 A=0.18446 G=0.81554 0.034612 0.665689 0.299699 0
African Sub 3142 A=0.3877 G=0.6123 0.157861 0.382559 0.45958 1
African Others Sub 124 A=0.411 G=0.589 0.209677 0.387097 0.403226 1
African American Sub 3018 A=0.3867 G=0.6133 0.155732 0.382372 0.461895 1
Asian Sub 124 A=0.000 G=1.000 0.0 1.0 0.0 N/A
East Asian Sub 98 A=0.00 G=1.00 0.0 1.0 0.0 N/A
Other Asian Sub 26 A=0.00 G=1.00 0.0 1.0 0.0 N/A
Latin American 1 Sub 160 A=0.244 G=0.756 0.075 0.5875 0.3375 0
Latin American 2 Sub 694 A=0.118 G=0.882 0.020173 0.783862 0.195965 1
South Asian Sub 112 A=0.232 G=0.768 0.071429 0.607143 0.321429 0
Other Sub 1588 A=0.2204 G=0.7796 0.054156 0.61335 0.332494 1


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=0.236424 G=0.763576
gnomAD - Genomes Global Study-wide 140092 A=0.230042 G=0.769958
gnomAD - Genomes European Sub 75908 A=0.16448 G=0.83552
gnomAD - Genomes African Sub 41938 A=0.38462 G=0.61538
gnomAD - Genomes American Sub 13642 A=0.16354 G=0.83646
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.2700 G=0.7300
gnomAD - Genomes East Asian Sub 3134 A=0.0064 G=0.9936
gnomAD - Genomes Other Sub 2148 A=0.2160 G=0.7840
Allele Frequency Aggregator Total Global 30378 A=0.20558 G=0.79442
Allele Frequency Aggregator European Sub 24558 A=0.18446 G=0.81554
Allele Frequency Aggregator African Sub 3142 A=0.3877 G=0.6123
Allele Frequency Aggregator Other Sub 1588 A=0.2204 G=0.7796
Allele Frequency Aggregator Latin American 2 Sub 694 A=0.118 G=0.882
Allele Frequency Aggregator Latin American 1 Sub 160 A=0.244 G=0.756
Allele Frequency Aggregator Asian Sub 124 A=0.000 G=1.000
Allele Frequency Aggregator South Asian Sub 112 A=0.232 G=0.768
14KJPN JAPANESE Study-wide 28258 A=0.00262 G=0.99738
8.3KJPN JAPANESE Study-wide 16760 A=0.00257 G=0.99743
1000Genomes_30x Global Study-wide 6404 A=0.2205 G=0.7795
1000Genomes_30x African Sub 1786 A=0.4474 G=0.5526
1000Genomes_30x Europe Sub 1266 A=0.1904 G=0.8096
1000Genomes_30x South Asian Sub 1202 A=0.1905 G=0.8095
1000Genomes_30x East Asian Sub 1170 A=0.0051 G=0.9949
1000Genomes_30x American Sub 980 A=0.140 G=0.860
1000Genomes Global Study-wide 5008 A=0.2159 G=0.7841
1000Genomes African Sub 1322 A=0.4418 G=0.5582
1000Genomes East Asian Sub 1008 A=0.0060 G=0.9940
1000Genomes Europe Sub 1006 A=0.1899 G=0.8101
1000Genomes South Asian Sub 978 A=0.201 G=0.799
1000Genomes American Sub 694 A=0.148 G=0.852
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.1868 G=0.8132
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.1718 G=0.8282
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.1748 G=0.8252
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.0003 C=0.0000, G=0.9997, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 A=0.0016 G=0.9984
Genome-wide autozygosity in Daghestan Global Study-wide 1130 A=0.1920 G=0.8080
Genome-wide autozygosity in Daghestan Daghestan Sub 622 A=0.175 G=0.825
Genome-wide autozygosity in Daghestan Near_East Sub 144 A=0.333 G=0.667
Genome-wide autozygosity in Daghestan Central Asia Sub 122 A=0.131 G=0.869
Genome-wide autozygosity in Daghestan Europe Sub 108 A=0.167 G=0.833
Genome-wide autozygosity in Daghestan South Asian Sub 98 A=0.16 G=0.84
Genome-wide autozygosity in Daghestan Caucasus Sub 36 A=0.28 G=0.72
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.162 G=0.838
Northern Sweden ACPOP Study-wide 600 A=0.132 G=0.868
SGDP_PRJ Global Study-wide 530 A=0.098 G=0.902
Qatari Global Study-wide 216 A=0.296 G=0.704
A Vietnamese Genetic Variation Database Global Study-wide 212 A=0.019 G=0.981
HapMap Global Study-wide 210 A=0.271 G=0.729
HapMap African Sub 120 A=0.475 G=0.525
HapMap Asian Sub 90 A=0.00 G=1.00
Siberian Global Study-wide 56 A=0.09 G=0.91
The Danish reference pan genome Danish Study-wide 40 A=0.17 G=0.82
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 3 NC_000003.12:g.172441134A>C
GRCh38.p14 chr 3 NC_000003.12:g.172441134A>G
GRCh38.p14 chr 3 NC_000003.12:g.172441134A>T
GRCh37.p13 chr 3 NC_000003.11:g.172158924A>C
GRCh37.p13 chr 3 NC_000003.11:g.172158924A>G
GRCh37.p13 chr 3 NC_000003.11:g.172158924A>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 A= C G T
GRCh38.p14 chr 3 NC_000003.12:g.172441134= NC_000003.12:g.172441134A>C NC_000003.12:g.172441134A>G NC_000003.12:g.172441134A>T
GRCh37.p13 chr 3 NC_000003.11:g.172158924= NC_000003.11:g.172158924A>C NC_000003.11:g.172158924A>G NC_000003.11:g.172158924A>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#.

91 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2801732 Jan 12, 2001 (92)
2 BGI ss5595880 Dec 12, 2002 (110)
3 WI_SSAHASNP ss6763502 Feb 20, 2003 (111)
4 BCM_SSAHASNP ss10086429 Jul 11, 2003 (116)
5 BCM_SSAHASNP ss14182397 Dec 05, 2003 (119)
6 SC_SNP ss16281055 Feb 27, 2004 (120)
7 SSAHASNP ss21946232 Apr 05, 2004 (121)
8 HGSV ss78607913 Dec 07, 2007 (129)
9 HGSV ss80853644 Dec 14, 2007 (130)
10 HGSV ss85950442 Dec 14, 2007 (130)
11 BCMHGSC_JDW ss92373061 Mar 24, 2008 (129)
12 HUMANGENOME_JCVI ss99150395 Feb 03, 2009 (130)
13 BGI ss105786476 Feb 03, 2009 (130)
14 1000GENOMES ss111358703 Jan 25, 2009 (130)
15 1000GENOMES ss112695904 Jan 25, 2009 (130)
16 ILLUMINA-UK ss117379966 Feb 14, 2009 (130)
17 ENSEMBL ss135426778 Dec 01, 2009 (131)
18 ENSEMBL ss139296659 Dec 01, 2009 (131)
19 GMI ss156508908 Dec 01, 2009 (131)
20 COMPLETE_GENOMICS ss162830140 Jul 04, 2010 (132)
21 COMPLETE_GENOMICS ss164989483 Jul 04, 2010 (132)
22 BUSHMAN ss203531846 Jul 04, 2010 (132)
23 BCM-HGSC-SUB ss206007994 Jul 04, 2010 (132)
24 1000GENOMES ss220582205 Jul 14, 2010 (132)
25 1000GENOMES ss232145135 Jul 14, 2010 (132)
26 1000GENOMES ss239492046 Jul 15, 2010 (132)
27 GMI ss277458512 May 04, 2012 (137)
28 GMI ss284795923 Apr 25, 2013 (138)
29 PJP ss292975165 May 09, 2011 (134)
30 ILLUMINA ss479515842 May 04, 2012 (137)
31 ILLUMINA ss484511424 May 04, 2012 (137)
32 ILLUMINA ss533053625 Sep 08, 2015 (146)
33 TISHKOFF ss557119524 Apr 25, 2013 (138)
34 SSMP ss650865096 Apr 25, 2013 (138)
35 ILLUMINA ss779601208 Sep 08, 2015 (146)
36 ILLUMINA ss781000840 Sep 08, 2015 (146)
37 ILLUMINA ss835073218 Sep 08, 2015 (146)
38 EVA-GONL ss979461289 Aug 21, 2014 (142)
39 JMKIDD_LAB ss1071058277 Aug 21, 2014 (142)
40 1000GENOMES ss1307294175 Aug 21, 2014 (142)
41 HAMMER_LAB ss1397359371 Sep 08, 2015 (146)
42 DDI ss1429673726 Apr 01, 2015 (144)
43 EVA_GENOME_DK ss1580298512 Apr 01, 2015 (144)
44 EVA_UK10K_ALSPAC ss1608816544 Apr 01, 2015 (144)
45 EVA_UK10K_TWINSUK ss1651810577 Apr 01, 2015 (144)
46 HAMMER_LAB ss1800447317 Sep 08, 2015 (146)
47 WEILL_CORNELL_DGM ss1922681508 Feb 12, 2016 (147)
48 GENOMED ss1969591022 Jul 19, 2016 (147)
49 JJLAB ss2021916125 Sep 14, 2016 (149)
50 USC_VALOUEV ss2150013662 Dec 20, 2016 (150)
51 HUMAN_LONGEVITY ss2258206821 Dec 20, 2016 (150)
52 SYSTEMSBIOZJU ss2625457549 Nov 08, 2017 (151)
53 ILLUMINA ss2634044427 Nov 08, 2017 (151)
54 GRF ss2705434380 Nov 08, 2017 (151)
55 GNOMAD ss2802394308 Nov 08, 2017 (151)
56 SWEGEN ss2993651354 Nov 08, 2017 (151)
57 BIOINF_KMB_FNS_UNIBA ss3024726511 Nov 08, 2017 (151)
58 CSHL ss3345398088 Nov 08, 2017 (151)
59 ILLUMINA ss3628836834 Oct 12, 2018 (152)
60 ILLUMINA ss3631985650 Oct 12, 2018 (152)
61 ILLUMINA ss3642297424 Oct 12, 2018 (152)
62 URBANLAB ss3647587270 Oct 12, 2018 (152)
63 EGCUT_WGS ss3661600589 Jul 13, 2019 (153)
64 EVA_DECODE ss3710837041 Jul 13, 2019 (153)
65 ACPOP ss3730597545 Jul 13, 2019 (153)
66 EVA ss3761042212 Jul 13, 2019 (153)
67 PACBIO ss3784537988 Jul 13, 2019 (153)
68 PACBIO ss3790019559 Jul 13, 2019 (153)
69 PACBIO ss3794894213 Jul 13, 2019 (153)
70 KHV_HUMAN_GENOMES ss3804177444 Jul 13, 2019 (153)
71 EVA ss3828220678 Apr 25, 2020 (154)
72 EVA ss3837543424 Apr 25, 2020 (154)
73 EVA ss3842975548 Apr 25, 2020 (154)
74 SGDP_PRJ ss3857569958 Apr 25, 2020 (154)
75 KRGDB ss3903642966 Apr 25, 2020 (154)
76 KOGIC ss3952952965 Apr 25, 2020 (154)
77 TOPMED ss4593577562 Apr 26, 2021 (155)
78 TOMMO_GENOMICS ss5162866671 Apr 26, 2021 (155)
79 1000G_HIGH_COVERAGE ss5257018381 Oct 12, 2022 (156)
80 EVA ss5314912443 Oct 12, 2022 (156)
81 HUGCELL_USP ss5456062920 Oct 12, 2022 (156)
82 EVA ss5507312637 Oct 12, 2022 (156)
83 1000G_HIGH_COVERAGE ss5536986354 Oct 12, 2022 (156)
84 SANFORD_IMAGENETICS ss5633758573 Oct 12, 2022 (156)
85 TOMMO_GENOMICS ss5696111747 Oct 12, 2022 (156)
86 YY_MCH ss5804494537 Oct 12, 2022 (156)
87 EVA ss5826863793 Oct 12, 2022 (156)
88 EVA ss5853961465 Oct 12, 2022 (156)
89 EVA ss5872142968 Oct 12, 2022 (156)
90 EVA ss5962135493 Oct 12, 2022 (156)
91 EVA ss5980187238 Oct 12, 2022 (156)
92 1000Genomes NC_000003.11 - 172158924 Oct 12, 2018 (152)
93 1000Genomes_30x NC_000003.12 - 172441134 Oct 12, 2022 (156)
94 The Avon Longitudinal Study of Parents and Children NC_000003.11 - 172158924 Oct 12, 2018 (152)
95 Genome-wide autozygosity in Daghestan NC_000003.10 - 173641618 Apr 25, 2020 (154)
96 Genetic variation in the Estonian population NC_000003.11 - 172158924 Oct 12, 2018 (152)
97 The Danish reference pan genome NC_000003.11 - 172158924 Apr 25, 2020 (154)
98 gnomAD - Genomes NC_000003.12 - 172441134 Apr 26, 2021 (155)
99 Genome of the Netherlands Release 5 NC_000003.11 - 172158924 Apr 25, 2020 (154)
100 HapMap NC_000003.12 - 172441134 Apr 25, 2020 (154)
101 KOREAN population from KRGDB NC_000003.11 - 172158924 Apr 25, 2020 (154)
102 Korean Genome Project NC_000003.12 - 172441134 Apr 25, 2020 (154)
103 Northern Sweden NC_000003.11 - 172158924 Jul 13, 2019 (153)
104 Qatari NC_000003.11 - 172158924 Apr 25, 2020 (154)
105 SGDP_PRJ NC_000003.11 - 172158924 Apr 25, 2020 (154)
106 Siberian NC_000003.11 - 172158924 Apr 25, 2020 (154)
107 8.3KJPN NC_000003.11 - 172158924 Apr 26, 2021 (155)
108 14KJPN NC_000003.12 - 172441134 Oct 12, 2022 (156)
109 TopMed NC_000003.12 - 172441134 Apr 26, 2021 (155)
110 UK 10K study - Twins NC_000003.11 - 172158924 Oct 12, 2018 (152)
111 A Vietnamese Genetic Variation Database NC_000003.11 - 172158924 Jul 13, 2019 (153)
112 ALFA NC_000003.12 - 172441134 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)
rs56802645 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
10820360, ss3903642966 NC_000003.11:172158923:A:C NC_000003.12:172441133:A:C (self)
ss78607913, ss80853644, ss85950442 NC_000003.9:173641625:A:G NC_000003.12:172441133:A:G (self)
335095, ss92373061, ss111358703, ss112695904, ss117379966, ss162830140, ss164989483, ss203531846, ss206007994, ss277458512, ss284795923, ss292975165, ss484511424, ss1397359371 NC_000003.10:173641617:A:G NC_000003.12:172441133:A:G (self)
18601248, 10365080, 7338837, 6463451, 4555564, 10820360, 3882410, 4723438, 9586938, 2530016, 20835978, 10365080, 2267468, ss220582205, ss232145135, ss239492046, ss479515842, ss533053625, ss557119524, ss650865096, ss779601208, ss781000840, ss835073218, ss979461289, ss1071058277, ss1307294175, ss1429673726, ss1580298512, ss1608816544, ss1651810577, ss1800447317, ss1922681508, ss1969591022, ss2021916125, ss2150013662, ss2625457549, ss2634044427, ss2705434380, ss2802394308, ss2993651354, ss3345398088, ss3628836834, ss3631985650, ss3642297424, ss3661600589, ss3730597545, ss3761042212, ss3784537988, ss3790019559, ss3794894213, ss3828220678, ss3837543424, ss3857569958, ss3903642966, ss5162866671, ss5314912443, ss5507312637, ss5633758573, ss5826863793, ss5962135493, ss5980187238 NC_000003.11:172158923:A:G NC_000003.12:172441133:A:G (self)
24512289, 132140678, 2510518, 9330966, 29948851, 430955117, 10706178027, ss2258206821, ss3024726511, ss3647587270, ss3710837041, ss3804177444, ss3842975548, ss3952952965, ss4593577562, ss5257018381, ss5456062920, ss5536986354, ss5696111747, ss5804494537, ss5853961465, ss5872142968 NC_000003.12:172441133:A:G NC_000003.12:172441133:A:G (self)
ss14182397, ss16281055, ss21946232 NT_005612.14:78654081:A:G NC_000003.12:172441133:A:G (self)
ss2801732, ss5595880, ss6763502, ss99150395, ss105786476, ss135426778, ss139296659, ss156508908 NT_005612.16:78654069:A:G NC_000003.12:172441133:A:G (self)
ss10086429 NT_005962.15:7371386:A:G NC_000003.12:172441133:A:G (self)
10820360, ss3903642966 NC_000003.11:172158923:A:T NC_000003.12:172441133:A:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs1916345
PMID Title Author Year Journal
20404923 Family and population-based studies of variation within the ghrelin receptor locus in relation to measures of obesity. Gjesing AP et al. 2010 PloS one
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.post820+afb47a3d