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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.

rs148715621

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:151876660 (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=0.005724 (1515/264690, TOPMED)
A=0.001622 (385/237332, GnomAD_exome)
A=0.005034 (706/140234, GnomAD) (+ 7 more)
A=0.001813 (205/113042, ExAC)
A=0.00273 (64/23408, ALFA)
A=0.00508 (66/13004, GO-ESP)
A=0.0086 (55/6404, 1000G_30x)
A=0.0074 (37/5008, 1000G)
G=0.5 (1/2, SGDP_PRJ)
A=0.5 (1/2, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
PRKAG2 : 5 Prime UTR Variant
PRKAG2-AS1 : 2KB Upstream 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 23408 G=0.99727 A=0.00273
European Sub 15886 G=0.99987 A=0.00013
African Sub 3540 G=0.9842 A=0.0158
African Others Sub 122 G=0.984 A=0.016
African American Sub 3418 G=0.9842 A=0.0158
Asian Sub 168 G=1.000 A=0.000
East Asian Sub 112 G=1.000 A=0.000
Other Asian Sub 56 G=1.00 A=0.00
Latin American 1 Sub 146 G=1.000 A=0.000
Latin American 2 Sub 610 G=0.998 A=0.002
South Asian Sub 98 G=1.00 A=0.00
Other Sub 2960 G=0.9983 A=0.0017


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=0.994276 A=0.005724
gnomAD - Exomes Global Study-wide 237332 G=0.998378 A=0.001622
gnomAD - Exomes European Sub 123162 G=0.999943 A=0.000057
gnomAD - Exomes Asian Sub 48444 G=0.99994 A=0.00006
gnomAD - Exomes American Sub 34212 G=0.99848 A=0.00152
gnomAD - Exomes African Sub 15622 G=0.97977 A=0.02023
gnomAD - Exomes Ashkenazi Jewish Sub 9936 G=1.0000 A=0.0000
gnomAD - Exomes Other Sub 5956 G=0.9988 A=0.0012
gnomAD - Genomes Global Study-wide 140234 G=0.994966 A=0.005034
gnomAD - Genomes European Sub 75938 G=0.99999 A=0.00001
gnomAD - Genomes African Sub 42028 G=0.98411 A=0.01589
gnomAD - Genomes American Sub 13660 G=0.99817 A=0.00183
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 2152 G=0.9944 A=0.0056
ExAC Global Study-wide 113042 G=0.998187 A=0.001813
ExAC Europe Sub 67682 G=0.99996 A=0.00004
ExAC Asian Sub 24062 G=1.00000 A=0.00000
ExAC American Sub 10934 G=0.99872 A=0.00128
ExAC African Sub 9514 G=0.9802 A=0.0198
ExAC Other Sub 850 G=1.000 A=0.000
Allele Frequency Aggregator Total Global 23408 G=0.99727 A=0.00273
Allele Frequency Aggregator European Sub 15886 G=0.99987 A=0.00013
Allele Frequency Aggregator African Sub 3540 G=0.9842 A=0.0158
Allele Frequency Aggregator Other Sub 2960 G=0.9983 A=0.0017
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.998 A=0.002
Allele Frequency Aggregator Asian Sub 168 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 A=0.00
GO Exome Sequencing Project Global Study-wide 13004 G=0.99492 A=0.00508
GO Exome Sequencing Project European American Sub 8600 G=1.0000 A=0.0000
GO Exome Sequencing Project African American Sub 4404 G=0.9850 A=0.0150
1000Genomes_30x Global Study-wide 6404 G=0.9914 A=0.0086
1000Genomes_30x African Sub 1786 G=0.9726 A=0.0274
1000Genomes_30x Europe Sub 1266 G=0.9984 A=0.0016
1000Genomes_30x South Asian Sub 1202 G=1.0000 A=0.0000
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=0.996 A=0.004
1000Genomes Global Study-wide 5008 G=0.9926 A=0.0074
1000Genomes African Sub 1322 G=0.9743 A=0.0257
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=0.9990 A=0.0010
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=0.997 A=0.003
SGDP_PRJ Global Study-wide 2 G=0.5 A=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 7 NC_000007.14:g.151876660G>A
GRCh37.p13 chr 7 NC_000007.13:g.151573745G>A
PRKAG2 RefSeqGene (LRG_430) NG_007486.2:g.5572C>T
Gene: PRKAG2, protein kinase AMP-activated non-catalytic subunit gamma 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PRKAG2 transcript variant 1 NM_016203.4:c.-40= N/A 5 Prime UTR Variant
PRKAG2 transcript variant 3 NM_001040633.2:c. N/A Genic Upstream Transcript Variant
PRKAG2 transcript variant 4 NM_001304527.2:c. N/A Genic Upstream Transcript Variant
PRKAG2 transcript variant 5 NM_001304531.2:c. N/A Genic Upstream Transcript Variant
PRKAG2 transcript variant 6 NM_001363698.2:c. N/A Genic Upstream Transcript Variant
PRKAG2 transcript variant 2 NM_024429.2:c. N/A Genic Upstream Transcript Variant
PRKAG2 transcript variant X3 XM_005250002.5:c.-40= N/A 5 Prime UTR Variant
PRKAG2 transcript variant X4 XM_047420447.1:c.-40= N/A 5 Prime UTR Variant
PRKAG2 transcript variant X5 XM_047420448.1:c.-292= N/A 5 Prime UTR Variant
PRKAG2 transcript variant X8 XM_017012269.2:c.-40= N/A 5 Prime UTR Variant
PRKAG2 transcript variant X9 XM_005250006.6:c. N/A Genic Upstream Transcript Variant
PRKAG2 transcript variant X1 XM_006716021.3:c. N/A Genic Upstream Transcript Variant
PRKAG2 transcript variant X2 XM_011516282.2:c. N/A Genic Upstream Transcript Variant
PRKAG2 transcript variant X3 XM_011516283.2:c. N/A Genic Upstream Transcript Variant
PRKAG2 transcript variant X4 XM_011516284.2:c. N/A Genic Upstream Transcript Variant
PRKAG2 transcript variant X11 XM_011516285.3:c. N/A Genic Upstream Transcript Variant
PRKAG2 transcript variant X6 XM_011516286.3:c. N/A Genic Upstream Transcript Variant
PRKAG2 transcript variant X7 XM_017012277.3:c. N/A Genic Upstream Transcript Variant
PRKAG2 transcript variant X10 XM_047420449.1:c. N/A Genic Upstream Transcript Variant
PRKAG2 transcript variant X8 XM_047420450.1:c. N/A Genic Upstream Transcript Variant
Gene: PRKAG2-AS1, PRKAG2 antisense RNA 1 (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
PRKAG2-AS1 transcript NR_038926.1:n. N/A Upstream 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: 305446 )
ClinVar Accession Disease Names Clinical Significance
RCV000340917.4 Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome Uncertain-Significance
RCV000397799.4 Lethal congenital glycogen storage disease of heart Uncertain-Significance
RCV001712759.2 not provided Benign
RCV001795985.3 Wolff-Parkinson-White pattern Uncertain-Significance
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 7 NC_000007.14:g.151876660= NC_000007.14:g.151876660G>A
GRCh37.p13 chr 7 NC_000007.13:g.151573745= NC_000007.13:g.151573745G>A
PRKAG2 RefSeqGene (LRG_430) NG_007486.2:g.5572= NG_007486.2:g.5572C>T
PRKAG2 transcript variant 1 NM_016203.4:c.-40= NM_016203.4:c.-40C>T
PRKAG2 transcript variant a NM_016203.3:c.-40= NM_016203.3:c.-40C>T
PRKAG2 transcript variant 7 NM_001407021.1:c.-40= NM_001407021.1:c.-40C>T
PRKAG2 transcript variant 8 NM_001407022.1:c.-40= NM_001407022.1:c.-40C>T
PRKAG2 transcript variant 9 NM_001407023.1:c.-40= NM_001407023.1:c.-40C>T
PRKAG2 transcript variant 15 NM_001407030.1:c.-40= NM_001407030.1:c.-40C>T
PRKAG2 transcript variant 16 NM_001407031.1:c.-40= NM_001407031.1:c.-40C>T
PRKAG2 transcript variant X3 XM_005250002.5:c.-40= XM_005250002.5:c.-40C>T
PRKAG2 transcript variant X8 XM_017012269.2:c.-40= XM_017012269.2:c.-40C>T
PRKAG2 transcript variant X5 XM_047420448.1:c.-292= XM_047420448.1:c.-292C>T
PRKAG2 transcript variant X4 XM_047420447.1:c.-40= XM_047420447.1:c.-40C>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#.

19 SubSNP, 9 Frequency, 4 ClinVar submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss334543689 May 09, 2011 (134)
2 1000GENOMES ss490957745 May 04, 2012 (137)
3 NHLBI-ESP ss712819193 Apr 25, 2013 (138)
4 1000GENOMES ss1327769611 Aug 21, 2014 (142)
5 EVA_EXAC ss1689037596 Apr 01, 2015 (144)
6 HUMAN_LONGEVITY ss2299124836 Dec 20, 2016 (150)
7 GNOMAD ss2736909716 Nov 08, 2017 (151)
8 GNOMAD ss2747969407 Nov 08, 2017 (151)
9 GNOMAD ss2860930059 Nov 08, 2017 (151)
10 EVA ss3824336826 Apr 26, 2020 (154)
11 SGDP_PRJ ss3868740368 Apr 26, 2020 (154)
12 TOPMED ss4769213628 Apr 27, 2021 (155)
13 1000G_HIGH_COVERAGE ss5275313688 Oct 17, 2022 (156)
14 EVA ss5377808790 Oct 17, 2022 (156)
15 HUGCELL_USP ss5472122323 Oct 17, 2022 (156)
16 1000G_HIGH_COVERAGE ss5564753537 Oct 17, 2022 (156)
17 SANFORD_IMAGENETICS ss5644313899 Oct 17, 2022 (156)
18 EVA ss5861518827 Oct 17, 2022 (156)
19 EVA ss5973515391 Oct 17, 2022 (156)
20 1000Genomes NC_000007.13 - 151573745 Oct 12, 2018 (152)
21 1000Genomes_30x NC_000007.14 - 151876660 Oct 17, 2022 (156)
22 ExAC NC_000007.13 - 151573745 Oct 12, 2018 (152)
23 gnomAD - Genomes NC_000007.14 - 151876660 Apr 27, 2021 (155)
24 gnomAD - Exomes NC_000007.13 - 151573745 Jul 13, 2019 (153)
25 GO Exome Sequencing Project NC_000007.13 - 151573745 Oct 12, 2018 (152)
26 SGDP_PRJ NC_000007.13 - 151573745 Apr 26, 2020 (154)
27 TopMed NC_000007.14 - 151876660 Apr 27, 2021 (155)
28 ALFA NC_000007.14 - 151876660 Apr 27, 2021 (155)
29 ClinVar RCV000340917.4 Oct 17, 2022 (156)
30 ClinVar RCV000397799.4 Oct 17, 2022 (156)
31 ClinVar RCV001712759.2 Oct 17, 2022 (156)
32 ClinVar RCV001795985.3 Oct 17, 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
39836669, 9126547, 6073243, 794688, 20757348, ss334543689, ss490957745, ss712819193, ss1327769611, ss1689037596, ss2736909716, ss2747969407, ss2860930059, ss3824336826, ss3868740368, ss5377808790, ss5644313899, ss5973515391 NC_000007.13:151573744:G:A NC_000007.14:151876659:G:A (self)
RCV000340917.4, RCV000397799.4, RCV001712759.2, RCV001795985.3, 52279472, 281283131, 606591187, 5468101739, ss2299124836, ss4769213628, ss5275313688, ss5472122323, ss5564753537, ss5861518827 NC_000007.14:151876659:G:A NC_000007.14:151876659: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 rs148715621

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