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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.

rs762433166

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:34994942 (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 / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000020 (5/250726, GnomAD_exome)
A=0.000016 (2/121354, ExAC)
A=0.00005 (1/19666, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PDHX : 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 19666 G=0.99995 A=0.00005, C=0.00000
European Sub 13022 G=0.99992 A=0.00008, C=0.00000
African Sub 2888 G=1.0000 A=0.0000, C=0.0000
African Others Sub 92 G=1.00 A=0.00, C=0.00
African American Sub 2796 G=1.0000 A=0.0000, C=0.0000
Asian Sub 164 G=1.000 A=0.000, C=0.000
East Asian Sub 110 G=1.000 A=0.000, C=0.000
Other Asian Sub 54 G=1.00 A=0.00, C=0.00
Latin American 1 Sub 146 G=1.000 A=0.000, C=0.000
Latin American 2 Sub 610 G=1.000 A=0.000, C=0.000
South Asian Sub 94 G=1.00 A=0.00, C=0.00
Other Sub 2742 G=1.0000 A=0.0000, C=0.0000


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
gnomAD - Exomes Global Study-wide 250726 G=0.999980 A=0.000020
gnomAD - Exomes European Sub 134708 G=0.999985 A=0.000015
gnomAD - Exomes Asian Sub 49008 G=1.00000 A=0.00000
gnomAD - Exomes American Sub 34558 G=0.99997 A=0.00003
gnomAD - Exomes African Sub 16254 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10072 G=0.99990 A=0.00010
gnomAD - Exomes Other Sub 6126 G=0.9998 A=0.0002
ExAC Global Study-wide 121354 G=0.999984 A=0.000016
ExAC Europe Sub 73344 G=0.99999 A=0.00001
ExAC Asian Sub 25162 G=1.00000 A=0.00000
ExAC American Sub 11534 G=1.00000 A=0.00000
ExAC African Sub 10406 G=1.00000 A=0.00000
ExAC Other Sub 908 G=0.999 A=0.001
Allele Frequency Aggregator Total Global 19666 G=0.99995 A=0.00005, C=0.00000
Allele Frequency Aggregator European Sub 13022 G=0.99992 A=0.00008, C=0.00000
Allele Frequency Aggregator African Sub 2888 G=1.0000 A=0.0000, C=0.0000
Allele Frequency Aggregator Other Sub 2742 G=1.0000 A=0.0000, C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator Asian Sub 164 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator South Asian Sub 94 G=1.00 A=0.00, C=0.00
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 11 NC_000011.10:g.34994942G>A
GRCh38.p14 chr 11 NC_000011.10:g.34994942G>C
GRCh37.p13 chr 11 NC_000011.9:g.35016489G>A
GRCh37.p13 chr 11 NC_000011.9:g.35016489G>C
PDHX RefSeqGene NG_013368.1:g.83813G>A
PDHX RefSeqGene NG_013368.1:g.83813G>C
Gene: PDHX, pyruvate dehydrogenase complex component X (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PDHX transcript variant 1 NM_003477.3:c.1276G>A D [GAC] > N [AAC] Coding Sequence Variant
pyruvate dehydrogenase protein X component, mitochondrial isoform 1 precursor NP_003468.2:p.Asp426Asn D (Asp) > N (Asn) Missense Variant
PDHX transcript variant 1 NM_003477.3:c.1276G>C D [GAC] > H [CAC] Coding Sequence Variant
pyruvate dehydrogenase protein X component, mitochondrial isoform 1 precursor NP_003468.2:p.Asp426His D (Asp) > H (His) Missense Variant
PDHX transcript variant 3 NM_001166158.2:c.595G>A D [GAC] > N [AAC] Coding Sequence Variant
pyruvate dehydrogenase protein X component, mitochondrial isoform 3 precursor NP_001159630.1:p.Asp199Asn D (Asp) > N (Asn) Missense Variant
PDHX transcript variant 3 NM_001166158.2:c.595G>C D [GAC] > H [CAC] Coding Sequence Variant
pyruvate dehydrogenase protein X component, mitochondrial isoform 3 precursor NP_001159630.1:p.Asp199His D (Asp) > H (His) Missense Variant
PDHX transcript variant 2 NM_001135024.2:c.1096G>A D [GAC] > N [AAC] Coding Sequence Variant
pyruvate dehydrogenase protein X component, mitochondrial isoform 2 NP_001128496.2:p.Asp366Asn D (Asp) > N (Asn) Missense Variant
PDHX transcript variant 2 NM_001135024.2:c.1096G>C D [GAC] > H [CAC] Coding Sequence Variant
pyruvate dehydrogenase protein X component, mitochondrial isoform 2 NP_001128496.2:p.Asp366His D (Asp) > H (His) Missense Variant
PDHX transcript variant X1 XM_011520390.2:c.1096G>A D [GAC] > N [AAC] Coding Sequence Variant
pyruvate dehydrogenase protein X component, mitochondrial isoform X1 XP_011518692.1:p.Asp366Asn D (Asp) > N (Asn) Missense Variant
PDHX transcript variant X1 XM_011520390.2:c.1096G>C D [GAC] > H [CAC] Coding Sequence Variant
pyruvate dehydrogenase protein X component, mitochondrial isoform X1 XP_011518692.1:p.Asp366His D (Asp) > 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 C
GRCh38.p14 chr 11 NC_000011.10:g.34994942= NC_000011.10:g.34994942G>A NC_000011.10:g.34994942G>C
GRCh37.p13 chr 11 NC_000011.9:g.35016489= NC_000011.9:g.35016489G>A NC_000011.9:g.35016489G>C
PDHX RefSeqGene NG_013368.1:g.83813= NG_013368.1:g.83813G>A NG_013368.1:g.83813G>C
PDHX transcript variant 1 NM_003477.3:c.1276= NM_003477.3:c.1276G>A NM_003477.3:c.1276G>C
PDHX transcript variant 1 NM_003477.2:c.1276= NM_003477.2:c.1276G>A NM_003477.2:c.1276G>C
PDHX transcript variant 2 NM_001135024.2:c.1096= NM_001135024.2:c.1096G>A NM_001135024.2:c.1096G>C
PDHX transcript variant 2 NM_001135024.1:c.1231= NM_001135024.1:c.1231G>A NM_001135024.1:c.1231G>C
PDHX transcript variant 3 NM_001166158.2:c.595= NM_001166158.2:c.595G>A NM_001166158.2:c.595G>C
PDHX transcript variant 3 NM_001166158.1:c.595= NM_001166158.1:c.595G>A NM_001166158.1:c.595G>C
PDHX transcript variant X1 XM_011520390.2:c.1096= XM_011520390.2:c.1096G>A XM_011520390.2:c.1096G>C
PDHX transcript variant X1 XM_011520390.1:c.1096= XM_011520390.1:c.1096G>A XM_011520390.1:c.1096G>C
pyruvate dehydrogenase protein X component, mitochondrial isoform 1 precursor NP_003468.2:p.Asp426= NP_003468.2:p.Asp426Asn NP_003468.2:p.Asp426His
pyruvate dehydrogenase protein X component, mitochondrial isoform 2 NP_001128496.2:p.Asp366= NP_001128496.2:p.Asp366Asn NP_001128496.2:p.Asp366His
pyruvate dehydrogenase protein X component, mitochondrial isoform 3 precursor NP_001159630.1:p.Asp199= NP_001159630.1:p.Asp199Asn NP_001159630.1:p.Asp199His
pyruvate dehydrogenase protein X component, mitochondrial isoform X1 XP_011518692.1:p.Asp366= XP_011518692.1:p.Asp366Asn XP_011518692.1:p.Asp366His
pyruvate dehydrogenase protein X component, mitochondrial isoform 2 NP_001128496.1:p.Asp411= NP_001128496.1:p.Asp411Asn NP_001128496.1:p.Asp411His
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#.

6 SubSNP, 7 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1690320856 Apr 01, 2015 (144)
2 GNOMAD ss2738896575 Nov 08, 2017 (151)
3 GNOMAD ss4233063063 Apr 26, 2021 (155)
4 GNOMAD ss4233063064 Apr 26, 2021 (155)
5 TOPMED ss4881238799 Apr 26, 2021 (155)
6 TOPMED ss4881238800 Apr 26, 2021 (155)
7 ExAC NC_000011.9 - 35016489 Oct 12, 2018 (152)
8 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 376342080 (NC_000011.10:34994941:G:A 2/140114)
Row 376342081 (NC_000011.10:34994941:G:C 1/140114)

- Apr 26, 2021 (155)
9 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 376342080 (NC_000011.10:34994941:G:A 2/140114)
Row 376342081 (NC_000011.10:34994941:G:C 1/140114)

- Apr 26, 2021 (155)
10 gnomAD - Exomes NC_000011.9 - 35016489 Jul 13, 2019 (153)
11 TopMed

Submission ignored due to conflicting rows:
Row 96784455 (NC_000011.10:34994941:G:A 4/264690)
Row 96784456 (NC_000011.10:34994941:G:C 2/264690)

- Apr 26, 2021 (155)
12 TopMed

Submission ignored due to conflicting rows:
Row 96784455 (NC_000011.10:34994941:G:A 4/264690)
Row 96784456 (NC_000011.10:34994941:G:C 2/264690)

- Apr 26, 2021 (155)
13 ALFA NC_000011.10 - 34994942 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
573652, 8108909, ss1690320856, ss2738896575 NC_000011.9:35016488:G:A NC_000011.10:34994941:G:A (self)
5097848451, ss4233063063, ss4881238799 NC_000011.10:34994941:G:A NC_000011.10:34994941:G:A (self)
5097848451, ss4233063064, ss4881238800 NC_000011.10:34994941:G:C NC_000011.10:34994941:G:C (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 rs762433166

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