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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.

rs2948694

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:172447373 (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
G=0.118958 (31487/264690, TOPMED)
G=0.140034 (17099/122106, GnomAD)
G=0.14812 (11656/78694, PAGE_STUDY) (+ 20 more)
G=0.11034 (3170/28730, ALFA)
G=0.31115 (8788/28244, 14KJPN)
G=0.31092 (5201/16728, 8.3KJPN)
G=0.2225 (1425/6404, 1000G_30x)
G=0.2272 (1138/5008, 1000G)
G=0.1230 (551/4478, Estonian)
G=0.1157 (446/3854, ALSPAC)
G=0.1073 (398/3708, TWINSUK)
G=0.3512 (1029/2930, KOREAN)
G=0.3444 (631/1832, Korea1K)
G=0.093 (93/998, GoNL)
G=0.332 (262/790, PRJEB37584)
G=0.117 (70/600, NorthernSweden)
G=0.074 (16/216, Qatari)
A=0.398 (82/206, SGDP_PRJ)
G=0.364 (75/206, Vietnamese)
G=0.197 (35/178, HapMap)
G=0.14 (10/72, Ancient Sardinia)
G=0.07 (3/40, GENOME_DK)
A=0.33 (6/18, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
GHSR : Intron Variant
Publications
9 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 28824 A=0.88988 G=0.11012 0.793852 0.014085 0.192062 4
European Sub 20664 A=0.89300 G=0.10700 0.798587 0.012582 0.188831 1
African Sub 6016 A=0.8984 G=0.1016 0.805519 0.008644 0.185838 1
African Others Sub 198 A=0.899 G=0.101 0.79798 0.0 0.20202 1
African American Sub 5818 A=0.8984 G=0.1016 0.805775 0.008938 0.185287 0
Asian Sub 148 A=0.655 G=0.345 0.472973 0.162162 0.364865 2
East Asian Sub 122 A=0.664 G=0.336 0.459016 0.131148 0.409836 0
Other Asian Sub 26 A=0.62 G=0.38 0.538462 0.307692 0.153846 4
Latin American 1 Sub 146 A=0.897 G=0.103 0.835616 0.041096 0.123288 5
Latin American 2 Sub 610 A=0.869 G=0.131 0.757377 0.019672 0.222951 0
South Asian Sub 106 A=0.642 G=0.358 0.396226 0.113208 0.490566 0
Other Sub 1134 A=0.8519 G=0.1481 0.738977 0.035273 0.22575 4


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=0.881042 G=0.118958
gnomAD - Genomes Global Study-wide 122106 A=0.859966 G=0.140034
gnomAD - Genomes European Sub 66772 A=0.86168 G=0.13832
gnomAD - Genomes African Sub 36922 A=0.88159 G=0.11841
gnomAD - Genomes American Sub 10690 A=0.82451 G=0.17549
gnomAD - Genomes Ashkenazi Jewish Sub 3058 A=0.9199 G=0.0801
gnomAD - Genomes East Asian Sub 2848 A=0.6141 G=0.3859
gnomAD - Genomes Other Sub 1816 A=0.8508 G=0.1492
The PAGE Study Global Study-wide 78694 A=0.85188 G=0.14812
The PAGE Study AfricanAmerican Sub 32514 A=0.89635 G=0.10365
The PAGE Study Mexican Sub 10808 A=0.87102 G=0.12898
The PAGE Study Asian Sub 8316 A=0.6696 G=0.3304
The PAGE Study PuertoRican Sub 7918 A=0.8788 G=0.1212
The PAGE Study NativeHawaiian Sub 4534 A=0.7283 G=0.2717
The PAGE Study Cuban Sub 4230 A=0.8974 G=0.1026
The PAGE Study Dominican Sub 3826 A=0.9111 G=0.0889
The PAGE Study CentralAmerican Sub 2450 A=0.8596 G=0.1404
The PAGE Study SouthAmerican Sub 1982 A=0.8078 G=0.1922
The PAGE Study NativeAmerican Sub 1260 A=0.8817 G=0.1183
The PAGE Study SouthAsian Sub 856 A=0.645 G=0.355
Allele Frequency Aggregator Total Global 28730 A=0.88966 G=0.11034
Allele Frequency Aggregator European Sub 20588 A=0.89280 G=0.10720
Allele Frequency Aggregator African Sub 6016 A=0.8984 G=0.1016
Allele Frequency Aggregator Other Sub 1116 A=0.8495 G=0.1505
Allele Frequency Aggregator Latin American 2 Sub 610 A=0.869 G=0.131
Allele Frequency Aggregator Asian Sub 148 A=0.655 G=0.345
Allele Frequency Aggregator Latin American 1 Sub 146 A=0.897 G=0.103
Allele Frequency Aggregator South Asian Sub 106 A=0.642 G=0.358
14KJPN JAPANESE Study-wide 28244 A=0.68885 G=0.31115
8.3KJPN JAPANESE Study-wide 16728 A=0.68908 G=0.31092
1000Genomes_30x Global Study-wide 6404 A=0.7775 G=0.2225
1000Genomes_30x African Sub 1786 A=0.9059 G=0.0941
1000Genomes_30x Europe Sub 1266 A=0.9013 G=0.0987
1000Genomes_30x South Asian Sub 1202 A=0.5840 G=0.4160
1000Genomes_30x East Asian Sub 1170 A=0.6265 G=0.3735
1000Genomes_30x American Sub 980 A=0.801 G=0.199
1000Genomes Global Study-wide 5008 A=0.7728 G=0.2272
1000Genomes African Sub 1322 A=0.9092 G=0.0908
1000Genomes East Asian Sub 1008 A=0.6260 G=0.3740
1000Genomes Europe Sub 1006 A=0.8907 G=0.1093
1000Genomes South Asian Sub 978 A=0.593 G=0.407
1000Genomes American Sub 694 A=0.808 G=0.192
Genetic variation in the Estonian population Estonian Study-wide 4478 A=0.8770 G=0.1230
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.8843 G=0.1157
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.8927 G=0.1073
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.6488 C=0.0000, G=0.3512, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 A=0.6556 G=0.3444
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.907 G=0.093
CNV burdens in cranial meningiomas Global Study-wide 790 A=0.668 G=0.332
CNV burdens in cranial meningiomas CRM Sub 790 A=0.668 G=0.332
Northern Sweden ACPOP Study-wide 600 A=0.883 G=0.117
Qatari Global Study-wide 216 A=0.926 G=0.074
SGDP_PRJ Global Study-wide 206 A=0.398 G=0.602
A Vietnamese Genetic Variation Database Global Study-wide 206 A=0.636 G=0.364
HapMap Global Study-wide 178 A=0.803 G=0.197
HapMap African Sub 104 A=0.904 G=0.096
HapMap Asian Sub 74 A=0.66 G=0.34
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 72 A=0.86 G=0.14
The Danish reference pan genome Danish Study-wide 40 A=0.93 G=0.07
Siberian Global Study-wide 18 A=0.33 G=0.67
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.172447373A>C
GRCh38.p14 chr 3 NC_000003.12:g.172447373A>G
GRCh38.p14 chr 3 NC_000003.12:g.172447373A>T
GRCh37.p13 chr 3 NC_000003.11:g.172165163A>C
GRCh37.p13 chr 3 NC_000003.11:g.172165163A>G
GRCh37.p13 chr 3 NC_000003.11:g.172165163A>T
GHSR RefSeqGene NG_021159.1:g.6084T>G
GHSR RefSeqGene NG_021159.1:g.6084T>C
GHSR RefSeqGene NG_021159.1:g.6084T>A
Gene: GHSR, growth hormone secretagogue receptor (minus strand)
Molecule type Change Amino acid[Codon] SO Term
GHSR transcript variant 1a NM_198407.2:c.796+245T>G N/A Intron Variant
GHSR transcript variant 1b NM_004122.2:c. N/A Genic Downstream 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.

Allele: G (allele ID: 1275888 )
ClinVar Accession Disease Names Clinical Significance
RCV001709826.1 not provided Benign
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.172447373= NC_000003.12:g.172447373A>C NC_000003.12:g.172447373A>G NC_000003.12:g.172447373A>T
GRCh37.p13 chr 3 NC_000003.11:g.172165163= NC_000003.11:g.172165163A>C NC_000003.11:g.172165163A>G NC_000003.11:g.172165163A>T
GHSR RefSeqGene NG_021159.1:g.6084= NG_021159.1:g.6084T>G NG_021159.1:g.6084T>C NG_021159.1:g.6084T>A
GHSR transcript variant 1a NM_198407.2:c.796+245= NM_198407.2:c.796+245T>G NM_198407.2:c.796+245T>C NM_198407.2:c.796+245T>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#.

66 SubSNP, 23 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss4156523 Nov 05, 2001 (101)
2 HG_BONN_CNS_SNPS ss12587073 Aug 26, 2003 (117)
3 IMCJ-GDT ss46563944 Mar 13, 2006 (126)
4 BCMHGSC_JDW ss92373069 Mar 24, 2008 (129)
5 1000GENOMES ss220582233 Jul 14, 2010 (132)
6 1000GENOMES ss232145152 Jul 14, 2010 (132)
7 1000GENOMES ss239492061 Jul 15, 2010 (132)
8 GMI ss277458529 May 04, 2012 (137)
9 TISHKOFF ss557119550 Apr 25, 2013 (138)
10 SSMP ss650865122 Apr 25, 2013 (138)
11 EVA-GONL ss979461326 Aug 21, 2014 (142)
12 JMKIDD_LAB ss1071058306 Aug 21, 2014 (142)
13 1000GENOMES ss1307294346 Aug 21, 2014 (142)
14 DDI ss1429673739 Apr 01, 2015 (144)
15 EVA_GENOME_DK ss1580298530 Apr 01, 2015 (144)
16 EVA_DECODE ss1588955980 Apr 01, 2015 (144)
17 EVA_UK10K_ALSPAC ss1608816632 Apr 01, 2015 (144)
18 EVA_UK10K_TWINSUK ss1651810665 Apr 01, 2015 (144)
19 WEILL_CORNELL_DGM ss1922681541 Feb 12, 2016 (147)
20 ILLUMINA ss1958629054 Feb 12, 2016 (147)
21 GENOMED ss1969591032 Jul 19, 2016 (147)
22 JJLAB ss2021916145 Sep 14, 2016 (149)
23 USC_VALOUEV ss2150013685 Dec 20, 2016 (150)
24 HUMAN_LONGEVITY ss2258207181 Dec 20, 2016 (150)
25 SYSTEMSBIOZJU ss2625457561 Nov 08, 2017 (151)
26 GRF ss2705434400 Nov 08, 2017 (151)
27 GNOMAD ss2802394735 Nov 08, 2017 (151)
28 AFFY ss2985276620 Nov 08, 2017 (151)
29 AFFY ss2985901186 Nov 08, 2017 (151)
30 SWEGEN ss2993651412 Nov 08, 2017 (151)
31 ILLUMINA ss3022313873 Nov 08, 2017 (151)
32 BIOINF_KMB_FNS_UNIBA ss3024726521 Nov 08, 2017 (151)
33 CSHL ss3345398103 Nov 08, 2017 (151)
34 ILLUMINA ss3652794828 Oct 12, 2018 (152)
35 ILLUMINA ss3654046544 Oct 12, 2018 (152)
36 EGCUT_WGS ss3661600673 Jul 13, 2019 (153)
37 EVA_DECODE ss3710837114 Jul 13, 2019 (153)
38 ILLUMINA ss3726081861 Jul 13, 2019 (153)
39 ACPOP ss3730597575 Jul 13, 2019 (153)
40 EVA ss3761042255 Jul 13, 2019 (153)
41 PAGE_CC ss3771083321 Jul 13, 2019 (153)
42 KHV_HUMAN_GENOMES ss3804177495 Jul 13, 2019 (153)
43 EVA ss3828220697 Apr 25, 2020 (154)
44 SGDP_PRJ ss3857570036 Apr 25, 2020 (154)
45 KRGDB ss3903643040 Apr 25, 2020 (154)
46 KOGIC ss3952953035 Apr 25, 2020 (154)
47 EVA ss3984519236 Apr 26, 2021 (155)
48 EVA ss3985037126 Apr 26, 2021 (155)
49 TOPMED ss4593579156 Apr 26, 2021 (155)
50 TOMMO_GENOMICS ss5162866822 Apr 26, 2021 (155)
51 EVA ss5237337591 Apr 26, 2021 (155)
52 1000G_HIGH_COVERAGE ss5257018498 Oct 12, 2022 (156)
53 EVA ss5345083484 Oct 12, 2022 (156)
54 HUGCELL_USP ss5456063021 Oct 12, 2022 (156)
55 EVA ss5507312656 Oct 12, 2022 (156)
56 1000G_HIGH_COVERAGE ss5536986560 Oct 12, 2022 (156)
57 SANFORD_IMAGENETICS ss5624538813 Oct 12, 2022 (156)
58 SANFORD_IMAGENETICS ss5633758635 Oct 12, 2022 (156)
59 TOMMO_GENOMICS ss5696111946 Oct 12, 2022 (156)
60 YY_MCH ss5804494561 Oct 12, 2022 (156)
61 EVA ss5826863843 Oct 12, 2022 (156)
62 EVA ss5847231116 Oct 12, 2022 (156)
63 EVA ss5853961483 Oct 12, 2022 (156)
64 EVA ss5872143138 Oct 12, 2022 (156)
65 EVA ss5962135572 Oct 12, 2022 (156)
66 EVA ss5979680327 Oct 12, 2022 (156)
67 1000Genomes NC_000003.11 - 172165163 Oct 12, 2018 (152)
68 1000Genomes_30x NC_000003.12 - 172447373 Oct 12, 2022 (156)
69 The Avon Longitudinal Study of Parents and Children NC_000003.11 - 172165163 Oct 12, 2018 (152)
70 Genetic variation in the Estonian population NC_000003.11 - 172165163 Oct 12, 2018 (152)
71 The Danish reference pan genome NC_000003.11 - 172165163 Apr 25, 2020 (154)
72 gnomAD - Genomes NC_000003.12 - 172447373 Apr 26, 2021 (155)
73 Genome of the Netherlands Release 5 NC_000003.11 - 172165163 Apr 25, 2020 (154)
74 HapMap NC_000003.12 - 172447373 Apr 25, 2020 (154)
75 KOREAN population from KRGDB NC_000003.11 - 172165163 Apr 25, 2020 (154)
76 Korean Genome Project NC_000003.12 - 172447373 Apr 25, 2020 (154)
77 Northern Sweden NC_000003.11 - 172165163 Jul 13, 2019 (153)
78 The PAGE Study NC_000003.12 - 172447373 Jul 13, 2019 (153)
79 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000003.11 - 172165163 Apr 26, 2021 (155)
80 CNV burdens in cranial meningiomas NC_000003.11 - 172165163 Apr 26, 2021 (155)
81 Qatari NC_000003.11 - 172165163 Apr 25, 2020 (154)
82 SGDP_PRJ NC_000003.11 - 172165163 Apr 25, 2020 (154)
83 Siberian NC_000003.11 - 172165163 Apr 25, 2020 (154)
84 8.3KJPN NC_000003.11 - 172165163 Apr 26, 2021 (155)
85 14KJPN NC_000003.12 - 172447373 Oct 12, 2022 (156)
86 TopMed NC_000003.12 - 172447373 Apr 26, 2021 (155)
87 UK 10K study - Twins NC_000003.11 - 172165163 Oct 12, 2018 (152)
88 A Vietnamese Genetic Variation Database NC_000003.11 - 172165163 Jul 13, 2019 (153)
89 ALFA NC_000003.12 - 172447373 Apr 26, 2021 (155)
90 ClinVar RCV001709826.1 Oct 12, 2022 (156)
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
10820434, ss3903643040 NC_000003.11:172165162:A:C NC_000003.12:172447372:A:C (self)
ss92373069, ss277458529, ss1588955980 NC_000003.10:173647856:A:G NC_000003.12:172447372:A:G (self)
18601427, 10365176, 7338921, 6463469, 4555601, 10820434, 3882440, 263053, 68589, 4723471, 9587016, 2530039, 20836129, 10365176, 2267488, ss220582233, ss232145152, ss239492061, ss557119550, ss650865122, ss979461326, ss1071058306, ss1307294346, ss1429673739, ss1580298530, ss1608816632, ss1651810665, ss1922681541, ss1958629054, ss1969591032, ss2021916145, ss2150013685, ss2625457561, ss2705434400, ss2802394735, ss2985276620, ss2985901186, ss2993651412, ss3022313873, ss3345398103, ss3652794828, ss3654046544, ss3661600673, ss3730597575, ss3761042255, ss3828220697, ss3857570036, ss3903643040, ss3984519236, ss3985037126, ss5162866822, ss5237337591, ss5345083484, ss5507312656, ss5624538813, ss5633758635, ss5826863843, ss5847231116, ss5962135572, ss5979680327 NC_000003.11:172165162:A:G NC_000003.12:172447372:A:G (self)
RCV001709826.1, 24512495, 132141909, 2510528, 9331036, 304790, 29949050, 430956711, 8197205007, ss2258207181, ss3024726521, ss3710837114, ss3726081861, ss3771083321, ss3804177495, ss3952953035, ss4593579156, ss5257018498, ss5456063021, ss5536986560, ss5696111946, ss5804494561, ss5853961483, ss5872143138 NC_000003.12:172447372:A:G NC_000003.12:172447372:A:G (self)
ss4156523, ss12587073, ss46563944 NT_005612.16:78660308:A:G NC_000003.12:172447372:A:G (self)
10820434, ss3903643040 NC_000003.11:172165162:A:T NC_000003.12:172447372: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.

9 citations for rs2948694
PMID Title Author Year Journal
18647811 Ghrelin receptor gene polymorphisms and body size in children and adults. Garcia EA et al. 2008 The Journal of clinical endocrinology and metabolism
18828808 Association of pro-ghrelin and GHS-R1A gene polymorphisms and haplotypes with heavy alcohol use and body mass. Landgren S et al. 2008 Alcoholism, clinical and experimental research
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
20586762 Genetic variation of the ghrelin signaling system in females with severe alcohol dependence. Landgren S et al. 2010 Alcoholism, clinical and experimental research
21448464 The ghrelin signalling system is involved in the consumption of sweets. Landgren S et al. 2011 PloS one
22106445 HTR1B, ADIPOR1, PPARGC1A, and CYP19A1 and obesity in a cohort of Caucasians and African Americans: an evaluation of gene-environment interactions and candidate genes. Edwards TL et al. 2012 American journal of epidemiology
23227170 Ghrelin influences novelty seeking behavior in rodents and men. Hansson C et al. 2012 PloS one
24340245 Adiposity, inflammation, genetic variants and risk of post-menopausal breast cancer findings from a prospective-specimen-collection, retrospective-blinded-evaluation (PRoBE) design approach. Yan XS et al. 2013 SpringerPlus
26059200 Genetic variation of the growth hormone secretagogue receptor gene is associated with alcohol use disorders identification test scores and smoking. Suchankova P et al. 2016 Addiction biology
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