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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.

rs114565703

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:124469484 (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=0.028543 (7555/264690, TOPMED)
A=0.002416 (499/206498, ALFA)
A=0.005448 (843/154728, GnomAD_exome) (+ 11 more)
A=0.027593 (3869/140216, GnomAD)
A=0.04225 (3323/78658, PAGE_STUDY)
A=0.00875 (173/19776, ExAC)
A=0.0219 (140/6404, 1000G_30x)
A=0.0190 (95/5008, 1000G)
A=0.0250 (114/4566, GO-ESP)
A=0.0003 (1/3854, ALSPAC)
A=0.0000 (0/3708, TWINSUK)
A=0.009 (2/216, Qatari)
G=0.50 (6/12, SGDP_PRJ)
A=0.50 (6/12, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ADGRD2 : Missense 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 222906 G=0.995752 A=0.004248
European Sub 185978 G=0.999866 A=0.000134
African Sub 10010 G=0.91888 A=0.08112
African Others Sub 368 G=0.932 A=0.068
African American Sub 9642 G=0.9184 A=0.0816
Asian Sub 6318 G=1.0000 A=0.0000
East Asian Sub 4474 G=1.0000 A=0.0000
Other Asian Sub 1844 G=1.0000 A=0.0000
Latin American 1 Sub 816 G=0.977 A=0.023
Latin American 2 Sub 1058 G=0.9972 A=0.0028
South Asian Sub 296 G=1.000 A=0.000
Other Sub 18430 G=0.99523 A=0.00477


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=0.971457 A=0.028543
Allele Frequency Aggregator Total Global 206498 G=0.997584 A=0.002416
Allele Frequency Aggregator European Sub 175840 G=0.999864 A=0.000136
Allele Frequency Aggregator Other Sub 16998 G=0.99594 A=0.00406
Allele Frequency Aggregator Asian Sub 6318 G=1.0000 A=0.0000
Allele Frequency Aggregator African Sub 5172 G=0.9258 A=0.0742
Allele Frequency Aggregator Latin American 2 Sub 1058 G=0.9972 A=0.0028
Allele Frequency Aggregator Latin American 1 Sub 816 G=0.977 A=0.023
Allele Frequency Aggregator South Asian Sub 296 G=1.000 A=0.000
gnomAD - Exomes Global Study-wide 154728 G=0.994552 A=0.005448
gnomAD - Exomes European Sub 75662 G=0.99989 A=0.00011
gnomAD - Exomes Asian Sub 33656 G=0.99988 A=0.00012
gnomAD - Exomes American Sub 24672 G=0.99587 A=0.00413
gnomAD - Exomes Ashkenazi Jewish Sub 8486 G=1.0000 A=0.0000
gnomAD - Exomes African Sub 7888 G=0.9092 A=0.0908
gnomAD - Exomes Other Sub 4364 G=0.9970 A=0.0030
gnomAD - Genomes Global Study-wide 140216 G=0.972407 A=0.027593
gnomAD - Genomes European Sub 75948 G=0.99984 A=0.00016
gnomAD - Genomes African Sub 42000 G=0.91202 A=0.08798
gnomAD - Genomes American Sub 13658 G=0.99136 A=0.00864
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3132 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2154 G=0.9796 A=0.0204
The PAGE Study Global Study-wide 78658 G=0.95775 A=0.04225
The PAGE Study AfricanAmerican Sub 32482 G=0.91358 A=0.08642
The PAGE Study Mexican Sub 10808 G=0.99611 A=0.00389
The PAGE Study Asian Sub 8318 G=0.9999 A=0.0001
The PAGE Study PuertoRican Sub 7918 G=0.9773 A=0.0227
The PAGE Study NativeHawaiian Sub 4530 G=0.9991 A=0.0009
The PAGE Study Cuban Sub 4228 G=0.9872 A=0.0128
The PAGE Study Dominican Sub 3828 G=0.9606 A=0.0394
The PAGE Study CentralAmerican Sub 2450 G=0.9816 A=0.0184
The PAGE Study SouthAmerican Sub 1982 G=0.9909 A=0.0091
The PAGE Study NativeAmerican Sub 1260 G=0.9833 A=0.0167
The PAGE Study SouthAsian Sub 854 G=1.000 A=0.000
ExAC Global Study-wide 19776 G=0.99125 A=0.00875
ExAC Europe Sub 8556 G=1.0000 A=0.0000
ExAC Asian Sub 8516 G=0.9999 A=0.0001
ExAC African Sub 2110 G=0.9199 A=0.0801
ExAC American Sub 402 G=0.995 A=0.005
ExAC Other Sub 192 G=0.995 A=0.005
1000Genomes_30x Global Study-wide 6404 G=0.9781 A=0.0219
1000Genomes_30x African Sub 1786 G=0.9261 A=0.0739
1000Genomes_30x Europe Sub 1266 G=1.0000 A=0.0000
1000Genomes_30x South Asian Sub 1202 G=1.0000 A=0.0000
1000Genomes_30x East Asian Sub 1170 G=0.9991 A=0.0009
1000Genomes_30x American Sub 980 G=0.993 A=0.007
1000Genomes Global Study-wide 5008 G=0.9810 A=0.0190
1000Genomes African Sub 1322 G=0.9319 A=0.0681
1000Genomes East Asian Sub 1008 G=0.9990 A=0.0010
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=0.994 A=0.006
GO Exome Sequencing Project Global Study-wide 4566 G=0.9750 A=0.0250
GO Exome Sequencing Project European American Sub 3182 G=0.9997 A=0.0003
GO Exome Sequencing Project African American Sub 1384 G=0.9184 A=0.0816
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9997 A=0.0003
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=1.0000 A=0.0000
Qatari Global Study-wide 216 G=0.991 A=0.009
SGDP_PRJ Global Study-wide 12 G=0.50 A=0.50
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.124469484G>A
GRCh37.p13 chr 9 NC_000009.11:g.127231763G>A
Gene: ADGRD2, adhesion G protein-coupled receptor D2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ADGRD2 transcript NM_001395425.1:c.2606G>A R [CGC] > H [CAC] Coding Sequence Variant
adhesion G-protein coupled receptor D2 precursor NP_001382354.1:p.Arg869His R (Arg) > H (His) Missense Variant
ADGRD2 transcript variant X1 XM_047423337.1:c. N/A Genic Downstream Transcript Variant
ADGRD2 transcript variant X2 XM_047423338.1:c. N/A Genic Downstream Transcript Variant
ADGRD2 transcript variant X3 XM_047423339.1:c.2606G>A R [CGC] > H [CAC] Coding Sequence Variant
adhesion G-protein coupled receptor D2 isoform X2 XP_047279295.1:p.Arg869His R (Arg) > H (His) Missense 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 9 NC_000009.12:g.124469484= NC_000009.12:g.124469484G>A
GRCh37.p13 chr 9 NC_000009.11:g.127231763= NC_000009.11:g.127231763G>A
GPR144 transcript NM_182611.2:c.2495= NM_182611.2:c.2495G>A
ADGRD2 transcript variant X3 XM_047423339.1:c.2606= XM_047423339.1:c.2606G>A
ADGRD2 transcript NM_001395425.1:c.2606= NM_001395425.1:c.2606G>A
GPR144 transcript NM_182611.1:c.2495= NM_182611.1:c.2495G>A
GPR144 transcript NM_001161808.1:c.2495= NM_001161808.1:c.2495G>A
adhesion G-protein coupled receptor D2 isoform X2 XP_047279295.1:p.Arg869= XP_047279295.1:p.Arg869His
adhesion G-protein coupled receptor D2 precursor NP_001382354.1:p.Arg869= NP_001382354.1:p.Arg869His
probable G-protein coupled receptor 144 NP_001155280.1:p.Arg832= NP_001155280.1:p.Arg832His
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#.

58 SubSNP, 13 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss224457882 Jul 14, 2010 (132)
2 ILLUMINA ss481640572 May 04, 2012 (137)
3 ILLUMINA ss485728831 May 04, 2012 (137)
4 EXOME_CHIP ss491428002 May 04, 2012 (137)
5 ILLUMINA ss534342448 Sep 08, 2015 (146)
6 NHLBI-ESP ss712906334 Apr 25, 2013 (138)
7 ILLUMINA ss779296435 Sep 08, 2015 (146)
8 ILLUMINA ss780880887 Sep 08, 2015 (146)
9 ILLUMINA ss781532133 Sep 08, 2015 (146)
10 ILLUMINA ss783566558 Sep 08, 2015 (146)
11 ILLUMINA ss834763580 Sep 08, 2015 (146)
12 JMKIDD_LAB ss1076614716 Aug 21, 2014 (142)
13 1000GENOMES ss1335481119 Aug 21, 2014 (142)
14 EVA_UK10K_ALSPAC ss1623581068 Apr 01, 2015 (144)
15 EVA_UK10K_TWINSUK ss1666575101 Apr 01, 2015 (144)
16 EVA_EXAC ss1689652891 Apr 01, 2015 (144)
17 ILLUMINA ss1752759974 Sep 08, 2015 (146)
18 HAMMER_LAB ss1806164324 Sep 08, 2015 (146)
19 ILLUMINA ss1917840810 Feb 12, 2016 (147)
20 WEILL_CORNELL_DGM ss1930300095 Feb 12, 2016 (147)
21 ILLUMINA ss1946269044 Feb 12, 2016 (147)
22 ILLUMINA ss1959216338 Feb 12, 2016 (147)
23 HUMAN_LONGEVITY ss2314488328 Dec 20, 2016 (150)
24 ILLUMINA ss2634918236 Nov 08, 2017 (151)
25 GNOMAD ss2737863902 Nov 08, 2017 (151)
26 GNOMAD ss2748265541 Nov 08, 2017 (151)
27 GNOMAD ss2883275333 Nov 08, 2017 (151)
28 AFFY ss2985473785 Nov 08, 2017 (151)
29 SWEGEN ss3005598852 Nov 08, 2017 (151)
30 ILLUMINA ss3022965243 Nov 08, 2017 (151)
31 ILLUMINA ss3630357879 Oct 12, 2018 (152)
32 ILLUMINA ss3630357880 Oct 12, 2018 (152)
33 ILLUMINA ss3632807625 Oct 12, 2018 (152)
34 ILLUMINA ss3635233240 Oct 12, 2018 (152)
35 ILLUMINA ss3640940529 Oct 12, 2018 (152)
36 ILLUMINA ss3645002371 Oct 12, 2018 (152)
37 ILLUMINA ss3653521479 Oct 12, 2018 (152)
38 ILLUMINA ss3654238550 Oct 12, 2018 (152)
39 ILLUMINA ss3726644015 Jul 13, 2019 (153)
40 ILLUMINA ss3744593634 Jul 13, 2019 (153)
41 ILLUMINA ss3745533140 Jul 13, 2019 (153)
42 PAGE_CC ss3771525664 Jul 13, 2019 (153)
43 ILLUMINA ss3773024987 Jul 13, 2019 (153)
44 KHV_HUMAN_GENOMES ss3812862623 Jul 13, 2019 (153)
45 EVA ss3824464699 Apr 26, 2020 (154)
46 EVA ss3831863320 Apr 26, 2020 (154)
47 SGDP_PRJ ss3873082623 Apr 26, 2020 (154)
48 FSA-LAB ss3984428995 Apr 26, 2021 (155)
49 EVA ss3986461091 Apr 26, 2021 (155)
50 TOPMED ss4835878779 Apr 26, 2021 (155)
51 1000G_HIGH_COVERAGE ss5282197169 Oct 16, 2022 (156)
52 EVA ss5390295259 Oct 16, 2022 (156)
53 HUGCELL_USP ss5478065420 Oct 16, 2022 (156)
54 1000G_HIGH_COVERAGE ss5575269246 Oct 16, 2022 (156)
55 SANFORD_IMAGENETICS ss5648276891 Oct 16, 2022 (156)
56 EVA ss5848219566 Oct 16, 2022 (156)
57 EVA ss5918052098 Oct 16, 2022 (156)
58 EVA ss5977488623 Oct 16, 2022 (156)
59 1000Genomes NC_000009.11 - 127231763 Oct 12, 2018 (152)
60 1000Genomes_30x NC_000009.12 - 124469484 Oct 16, 2022 (156)
61 The Avon Longitudinal Study of Parents and Children NC_000009.11 - 127231763 Oct 12, 2018 (152)
62 ExAC NC_000009.11 - 127231763 Oct 12, 2018 (152)
63 gnomAD - Genomes NC_000009.12 - 124469484 Apr 26, 2021 (155)
64 gnomAD - Exomes NC_000009.11 - 127231763 Jul 13, 2019 (153)
65 GO Exome Sequencing Project NC_000009.11 - 127231763 Oct 12, 2018 (152)
66 The PAGE Study NC_000009.12 - 124469484 Jul 13, 2019 (153)
67 Qatari NC_000009.11 - 127231763 Apr 26, 2020 (154)
68 SGDP_PRJ NC_000009.11 - 127231763 Apr 26, 2020 (154)
69 TopMed NC_000009.12 - 124469484 Apr 26, 2021 (155)
70 UK 10K study - Twins NC_000009.11 - 127231763 Oct 12, 2018 (152)
71 ALFA NC_000009.12 - 124469484 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
ss485728831 NC_000009.10:126271583:G:A NC_000009.12:124469483:G:A (self)
47799899, 26568076, 9788481, 7051907, 922457, 12342025, 25099603, 26568076, ss224457882, ss481640572, ss491428002, ss534342448, ss712906334, ss779296435, ss780880887, ss781532133, ss783566558, ss834763580, ss1076614716, ss1335481119, ss1623581068, ss1666575101, ss1689652891, ss1752759974, ss1806164324, ss1917840810, ss1930300095, ss1946269044, ss1959216338, ss2634918236, ss2737863902, ss2748265541, ss2883275333, ss2985473785, ss3005598852, ss3022965243, ss3630357879, ss3630357880, ss3632807625, ss3635233240, ss3640940529, ss3645002371, ss3653521479, ss3654238550, ss3744593634, ss3745533140, ss3773024987, ss3824464699, ss3831863320, ss3873082623, ss3984428995, ss3986461091, ss5390295259, ss5648276891, ss5848219566, ss5977488623 NC_000009.11:127231762:G:A NC_000009.12:124469483:G:A (self)
62795181, 337818212, 747133, 673256340, 12533360164, ss2314488328, ss3726644015, ss3771525664, ss3812862623, ss4835878779, ss5282197169, ss5478065420, ss5575269246, ss5918052098 NC_000009.12:124469483:G:A NC_000009.12:124469483: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 rs114565703

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