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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.

rs185747820

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:37430602 (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
C>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000098 (26/264690, TOPMED)
A=0.000131 (33/251420, GnomAD_exome)
A=0.000165 (31/187724, ALFA) (+ 6 more)
A=0.000078 (11/140256, GnomAD)
A=0.000132 (16/121356, ExAC)
A=0.00022 (17/78698, PAGE_STUDY)
A=0.00015 (2/13006, GO-ESP)
A=0.0005 (3/6404, 1000G_30x)
A=0.0006 (3/5008, 1000G)
Clinical Significance
Reported in ClinVar
Gene : Consequence
GRHPR : 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 204136 C=0.999843 A=0.000157
European Sub 173792 C=0.999816 A=0.000184
African Sub 9744 C=1.0000 A=0.0000
African Others Sub 360 C=1.000 A=0.000
African American Sub 9384 C=1.0000 A=0.0000
Asian Sub 3394 C=1.0000 A=0.0000
East Asian Sub 2712 C=1.0000 A=0.0000
Other Asian Sub 682 C=1.000 A=0.000
Latin American 1 Sub 796 C=1.000 A=0.000
Latin American 2 Sub 968 C=1.000 A=0.000
South Asian Sub 280 C=1.000 A=0.000
Other Sub 15162 C=1.00000 A=0.00000


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 C=0.999902 A=0.000098
gnomAD - Exomes Global Study-wide 251420 C=0.999869 A=0.000131
gnomAD - Exomes European Sub 135362 C=0.999867 A=0.000133
gnomAD - Exomes Asian Sub 49010 C=1.00000 A=0.00000
gnomAD - Exomes American Sub 34580 C=0.99962 A=0.00038
gnomAD - Exomes African Sub 16252 C=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10080 C=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6136 C=0.9997 A=0.0003
Allele Frequency Aggregator Total Global 187724 C=0.999835 A=0.000165
Allele Frequency Aggregator European Sub 163652 C=0.999811 A=0.000189
Allele Frequency Aggregator Other Sub 13728 C=1.00000 A=0.00000
Allele Frequency Aggregator African Sub 4906 C=1.0000 A=0.0000
Allele Frequency Aggregator Asian Sub 3394 C=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 968 C=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 796 C=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 280 C=1.000 A=0.000
gnomAD - Genomes Global Study-wide 140256 C=0.999922 A=0.000078
gnomAD - Genomes European Sub 75944 C=0.99992 A=0.00008
gnomAD - Genomes African Sub 42046 C=1.00000 A=0.00000
gnomAD - Genomes American Sub 13660 C=0.99963 A=0.00037
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3130 C=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2154 C=1.0000 A=0.0000
ExAC Global Study-wide 121356 C=0.999868 A=0.000132
ExAC Europe Sub 73322 C=0.99988 A=0.00012
ExAC Asian Sub 25156 C=1.00000 A=0.00000
ExAC American Sub 11566 C=0.99939 A=0.00061
ExAC African Sub 10404 C=1.00000 A=0.00000
ExAC Other Sub 908 C=1.000 A=0.000
The PAGE Study Global Study-wide 78698 C=0.99978 A=0.00022
The PAGE Study AfricanAmerican Sub 32514 C=1.00000 A=0.00000
The PAGE Study Mexican Sub 10810 C=0.99963 A=0.00037
The PAGE Study Asian Sub 8318 C=1.0000 A=0.0000
The PAGE Study PuertoRican Sub 7918 C=0.9999 A=0.0001
The PAGE Study NativeHawaiian Sub 4534 C=1.0000 A=0.0000
The PAGE Study Cuban Sub 4230 C=0.9981 A=0.0019
The PAGE Study Dominican Sub 3828 C=0.9997 A=0.0003
The PAGE Study CentralAmerican Sub 2448 C=1.0000 A=0.0000
The PAGE Study SouthAmerican Sub 1982 C=0.9990 A=0.0010
The PAGE Study NativeAmerican Sub 1260 C=0.9992 A=0.0008
The PAGE Study SouthAsian Sub 856 C=1.000 A=0.000
GO Exome Sequencing Project Global Study-wide 13006 C=0.99985 A=0.00015
GO Exome Sequencing Project European American Sub 8600 C=0.9998 A=0.0002
GO Exome Sequencing Project African American Sub 4406 C=1.0000 A=0.0000
1000Genomes_30x Global Study-wide 6404 C=0.9995 A=0.0005
1000Genomes_30x African Sub 1786 C=1.0000 A=0.0000
1000Genomes_30x Europe Sub 1266 C=0.9984 A=0.0016
1000Genomes_30x South Asian Sub 1202 C=1.0000 A=0.0000
1000Genomes_30x East Asian Sub 1170 C=1.0000 A=0.0000
1000Genomes_30x American Sub 980 C=0.999 A=0.001
1000Genomes Global Study-wide 5008 C=0.9994 A=0.0006
1000Genomes African Sub 1322 C=1.0000 A=0.0000
1000Genomes East Asian Sub 1008 C=1.0000 A=0.0000
1000Genomes Europe Sub 1006 C=0.9980 A=0.0020
1000Genomes South Asian Sub 978 C=1.000 A=0.000
1000Genomes American Sub 694 C=0.999 A=0.001
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.37430602C>A
GRCh37.p13 chr 9 NC_000009.11:g.37430599C>A
GRHPR RefSeqGene NG_008135.1:g.12893C>A
Gene: GRHPR, glyoxylate and hydroxypyruvate reductase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
GRHPR transcript NM_012203.2:c.690C>A F [TTC] > L [TTA] Coding Sequence Variant
glyoxylate reductase/hydroxypyruvate reductase NP_036335.1:p.Phe230Leu F (Phe) > L (Leu) Missense Variant
GRHPR transcript variant X1 XM_024447716.2:c.963C>A F [TTC] > L [TTA] Coding Sequence Variant
glyoxylate reductase/hydroxypyruvate reductase isoform X1 XP_024303484.1:p.Phe321Leu F (Phe) > L (Leu) Missense Variant
GRHPR transcript variant X3 XM_017015320.3:c.690C>A F [TTC] > L [TTA] Coding Sequence Variant
glyoxylate reductase/hydroxypyruvate reductase isoform X2 XP_016870809.1:p.Phe230Leu F (Phe) > L (Leu) Missense Variant
GRHPR transcript variant X4 XM_017015321.3:c.690C>A F [TTC] > L [TTA] Coding Sequence Variant
glyoxylate reductase/hydroxypyruvate reductase isoform X3 XP_016870810.1:p.Phe230Leu F (Phe) > L (Leu) Missense Variant
GRHPR transcript variant X6 XM_047424084.1:c.369C>A F [TTC] > L [TTA] Coding Sequence Variant
glyoxylate reductase/hydroxypyruvate reductase isoform X4 XP_047280040.1:p.Phe123Leu F (Phe) > L (Leu) Missense Variant
GRHPR transcript variant X7 XM_005251631.2:c.369C>A F [TTC] > L [TTA] Coding Sequence Variant
glyoxylate reductase/hydroxypyruvate reductase isoform X5 XP_005251688.1:p.Phe123Leu F (Phe) > L (Leu) Missense Variant
GRHPR transcript variant X8 XM_017015323.3:c.288C>A F [TTC] > L [TTA] Coding Sequence Variant
glyoxylate reductase/hydroxypyruvate reductase isoform X6 XP_016870812.1:p.Phe96Leu F (Phe) > L (Leu) Missense Variant
GRHPR transcript variant X9 XM_047424085.1:c.288C>A F [TTC] > L [TTA] Coding Sequence Variant
glyoxylate reductase/hydroxypyruvate reductase isoform X7 XP_047280041.1:p.Phe96Leu F (Phe) > L (Leu) Missense Variant
GRHPR transcript variant X2 XR_002956828.2:n.978C>A N/A Non Coding Transcript Variant
GRHPR transcript variant X5 XR_007061375.1:n.745C>A N/A Non Coding 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: A (allele ID: 902072 )
ClinVar Accession Disease Names Clinical Significance
RCV001167411.2 Primary hyperoxaluria, type II Uncertain-Significance
RCV001355504.5 not provided Likely-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 C= A
GRCh38.p14 chr 9 NC_000009.12:g.37430602= NC_000009.12:g.37430602C>A
GRCh37.p13 chr 9 NC_000009.11:g.37430599= NC_000009.11:g.37430599C>A
GRHPR RefSeqGene NG_008135.1:g.12893= NG_008135.1:g.12893C>A
GRHPR transcript NM_012203.2:c.690= NM_012203.2:c.690C>A
GRHPR transcript NM_012203.1:c.690= NM_012203.1:c.690C>A
GRHPR transcript variant X4 XM_017015321.3:c.690= XM_017015321.3:c.690C>A
GRHPR transcript variant X7 XM_017015321.2:c.690= XM_017015321.2:c.690C>A
GRHPR transcript variant X2 XM_017015321.1:c.690= XM_017015321.1:c.690C>A
GRHPR transcript variant X3 XM_017015320.3:c.690= XM_017015320.3:c.690C>A
GRHPR transcript variant X6 XM_017015320.2:c.690= XM_017015320.2:c.690C>A
GRHPR transcript variant X1 XM_017015320.1:c.690= XM_017015320.1:c.690C>A
GRHPR transcript variant X8 XM_017015323.3:c.288= XM_017015323.3:c.288C>A
GRHPR transcript variant X11 XM_017015323.2:c.288= XM_017015323.2:c.288C>A
GRHPR transcript variant X5 XM_017015323.1:c.288= XM_017015323.1:c.288C>A
GRHPR transcript variant X1 XM_024447716.2:c.963= XM_024447716.2:c.963C>A
GRHPR transcript variant X1 XM_024447716.1:c.963= XM_024447716.1:c.963C>A
GRHPR transcript variant X2 XR_002956828.2:n.978= XR_002956828.2:n.978C>A
GRHPR transcript variant X2 XR_002956828.1:n.978= XR_002956828.1:n.978C>A
GRHPR transcript variant X7 XM_005251631.2:c.369= XM_005251631.2:c.369C>A
GRHPR transcript variant X10 XM_005251631.1:c.369= XM_005251631.1:c.369C>A
GRHPR transcript variant X5 XR_007061375.1:n.745= XR_007061375.1:n.745C>A
GRHPR transcript variant X9 XM_047424085.1:c.288= XM_047424085.1:c.288C>A
GRHPR transcript variant X6 XM_047424084.1:c.369= XM_047424084.1:c.369C>A
glyoxylate reductase/hydroxypyruvate reductase NP_036335.1:p.Phe230= NP_036335.1:p.Phe230Leu
glyoxylate reductase/hydroxypyruvate reductase isoform X3 XP_016870810.1:p.Phe230= XP_016870810.1:p.Phe230Leu
glyoxylate reductase/hydroxypyruvate reductase isoform X2 XP_016870809.1:p.Phe230= XP_016870809.1:p.Phe230Leu
glyoxylate reductase/hydroxypyruvate reductase isoform X6 XP_016870812.1:p.Phe96= XP_016870812.1:p.Phe96Leu
glyoxylate reductase/hydroxypyruvate reductase isoform X1 XP_024303484.1:p.Phe321= XP_024303484.1:p.Phe321Leu
glyoxylate reductase/hydroxypyruvate reductase isoform X5 XP_005251688.1:p.Phe123= XP_005251688.1:p.Phe123Leu
glyoxylate reductase/hydroxypyruvate reductase isoform X7 XP_047280041.1:p.Phe96= XP_047280041.1:p.Phe96Leu
glyoxylate reductase/hydroxypyruvate reductase isoform X4 XP_047280040.1:p.Phe123= XP_047280040.1:p.Phe123Leu
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#.

37 SubSNP, 9 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss461068082 Sep 17, 2011 (135)
2 1000GENOMES ss490977803 May 04, 2012 (137)
3 EXOME_CHIP ss491422638 May 04, 2012 (137)
4 NHLBI-ESP ss712886582 Apr 25, 2013 (138)
5 ILLUMINA ss780876768 Sep 08, 2015 (146)
6 ILLUMINA ss783562265 Sep 08, 2015 (146)
7 1000GENOMES ss1333770424 Aug 21, 2014 (142)
8 EVA_EXAC ss1689488204 Apr 01, 2015 (144)
9 ILLUMINA ss1752777584 Sep 08, 2015 (146)
10 ILLUMINA ss1917836374 Feb 12, 2016 (147)
11 ILLUMINA ss1946258118 Feb 12, 2016 (147)
12 ILLUMINA ss1959182198 Feb 12, 2016 (147)
13 HUMAN_LONGEVITY ss2311174297 Dec 20, 2016 (150)
14 GNOMAD ss2737608595 Nov 08, 2017 (151)
15 GNOMAD ss2748185506 Nov 08, 2017 (151)
16 GNOMAD ss2877872962 Nov 08, 2017 (151)
17 ILLUMINA ss3022927151 Nov 08, 2017 (151)
18 ILLUMINA ss3630261370 Oct 12, 2018 (152)
19 ILLUMINA ss3635212916 Oct 12, 2018 (152)
20 ILLUMINA ss3640920206 Oct 12, 2018 (152)
21 ILLUMINA ss3644991444 Oct 12, 2018 (152)
22 ILLUMINA ss3653479444 Oct 12, 2018 (152)
23 ILLUMINA ss3726610551 Jul 13, 2019 (153)
24 ILLUMINA ss3744588917 Jul 13, 2019 (153)
25 ILLUMINA ss3745512829 Jul 13, 2019 (153)
26 PAGE_CC ss3771499434 Jul 13, 2019 (153)
27 ILLUMINA ss3773004866 Jul 13, 2019 (153)
28 EVA ss3824430158 Apr 26, 2020 (154)
29 EVA ss3825754982 Apr 26, 2020 (154)
30 TOPMED ss4820293219 Apr 26, 2021 (155)
31 1000G_HIGH_COVERAGE ss5280545522 Oct 13, 2022 (156)
32 EVA ss5387404153 Oct 13, 2022 (156)
33 HUGCELL_USP ss5476745023 Oct 13, 2022 (156)
34 1000G_HIGH_COVERAGE ss5572720254 Oct 13, 2022 (156)
35 EVA ss5848205452 Oct 13, 2022 (156)
36 EVA ss5916384869 Oct 13, 2022 (156)
37 EVA ss5976625112 Oct 13, 2022 (156)
38 1000Genomes NC_000009.11 - 37430599 Oct 12, 2018 (152)
39 1000Genomes_30x NC_000009.12 - 37430602 Oct 13, 2022 (156)
40 ExAC NC_000009.11 - 37430599 Oct 12, 2018 (152)
41 gnomAD - Genomes NC_000009.12 - 37430602 Apr 26, 2021 (155)
42 gnomAD - Exomes NC_000009.11 - 37430599 Jul 13, 2019 (153)
43 GO Exome Sequencing Project NC_000009.11 - 37430599 Oct 12, 2018 (152)
44 The PAGE Study NC_000009.12 - 37430602 Jul 13, 2019 (153)
45 TopMed NC_000009.12 - 37430602 Apr 26, 2021 (155)
46 ALFA NC_000009.12 - 37430602 Apr 26, 2021 (155)
47 ClinVar RCV001167411.2 Oct 13, 2022 (156)
48 ClinVar RCV001355504.5 Oct 13, 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
46026435, 9610987, 6792708, 887950, ss461068082, ss490977803, ss491422638, ss712886582, ss780876768, ss783562265, ss1333770424, ss1689488204, ss1752777584, ss1917836374, ss1946258118, ss1959182198, ss2737608595, ss2748185506, ss2877872962, ss3022927151, ss3630261370, ss3635212916, ss3640920206, ss3644991444, ss3653479444, ss3744588917, ss3745512829, ss3773004866, ss3824430158, ss3825754982, ss5387404153, ss5848205452, ss5976625112 NC_000009.11:37430598:C:A NC_000009.12:37430601:C:A (self)
RCV001167411.2, RCV001355504.5, 60246189, 324387200, 720903, 657670780, 3608405711, ss2311174297, ss3726610551, ss3771499434, ss4820293219, ss5280545522, ss5476745023, ss5572720254, ss5916384869 NC_000009.12:37430601:C:A NC_000009.12:37430601:C: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 rs185747820

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