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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.

rs1478432050

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:66850779 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000004 (1/247816, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PC : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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 247816 C=0.999996 T=0.000004
gnomAD - Exomes European Sub 132138 C=1.000000 T=0.000000
gnomAD - Exomes Asian Sub 48934 C=0.99998 T=0.00002
gnomAD - Exomes American Sub 34520 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 16110 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10030 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6084 C=1.0000 T=0.0000
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.66850779C>T
GRCh37.p13 chr 11 NC_000011.9:g.66618250C>T
PC RefSeqGene NG_008319.1:g.112598G>A
Gene: PC, pyruvate carboxylase (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PC transcript variant 3 NM_001040716.2:c.2368G>A G [GGA] > R [AGA] Coding Sequence Variant
pyruvate carboxylase, mitochondrial precursor NP_001035806.1:p.Gly790Arg G (Gly) > R (Arg) Missense Variant
PC transcript variant 1 NM_000920.4:c.2368G>A G [GGA] > R [AGA] Coding Sequence Variant
pyruvate carboxylase, mitochondrial precursor NP_000911.2:p.Gly790Arg G (Gly) > R (Arg) Missense Variant
PC transcript variant 2 NM_022172.3:c.2368G>A G [GGA] > R [AGA] Coding Sequence Variant
pyruvate carboxylase, mitochondrial precursor NP_071504.2:p.Gly790Arg G (Gly) > R (Arg) Missense Variant
PC transcript variant X1 XM_017017870.2:c.2368G>A G [GGA] > R [AGA] Coding Sequence Variant
pyruvate carboxylase, mitochondrial isoform X1 XP_016873359.1:p.Gly790Arg G (Gly) > R (Arg) Missense Variant
PC transcript variant X2 XM_017017868.2:c.2368G>A G [GGA] > R [AGA] Coding Sequence Variant
pyruvate carboxylase, mitochondrial isoform X1 XP_016873357.1:p.Gly790Arg G (Gly) > R (Arg) Missense Variant
PC transcript variant X3 XM_017017871.2:c.2368G>A G [GGA] > R [AGA] Coding Sequence Variant
pyruvate carboxylase, mitochondrial isoform X1 XP_016873360.1:p.Gly790Arg G (Gly) > R (Arg) Missense Variant
PC transcript variant X4 XM_011545086.3:c.2368G>A G [GGA] > R [AGA] Coding Sequence Variant
pyruvate carboxylase, mitochondrial isoform X1 XP_011543388.1:p.Gly790Arg G (Gly) > R (Arg) Missense Variant
PC transcript variant X5 XM_006718578.4:c.2368G>A G [GGA] > R [AGA] Coding Sequence Variant
pyruvate carboxylase, mitochondrial isoform X1 XP_006718641.1:p.Gly790Arg G (Gly) > R (Arg) Missense Variant
PC transcript variant X6 XM_017017872.3:c.2368G>A G [GGA] > R [AGA] Coding Sequence Variant
pyruvate carboxylase, mitochondrial isoform X1 XP_016873361.1:p.Gly790Arg G (Gly) > R (Arg) Missense Variant
PC transcript variant X7 XM_017017869.2:c.2368G>A G [GGA] > R [AGA] Coding Sequence Variant
pyruvate carboxylase, mitochondrial isoform X1 XP_016873358.1:p.Gly790Arg G (Gly) > R (Arg) Missense Variant
PC transcript variant X8 XM_005274031.5:c.2368G>A G [GGA] > R [AGA] Coding Sequence Variant
pyruvate carboxylase, mitochondrial isoform X1 XP_005274088.1:p.Gly790Arg G (Gly) > R (Arg) Missense Variant
PC transcript variant X9 XM_005274032.5:c.2368G>A G [GGA] > R [AGA] Coding Sequence Variant
pyruvate carboxylase, mitochondrial isoform X1 XP_005274089.1:p.Gly790Arg G (Gly) > R (Arg) Missense Variant
PC transcript variant X10 XM_011545087.3:c.1072G>A G [GGA] > R [AGA] Coding Sequence Variant
pyruvate carboxylase, mitochondrial isoform X2 XP_011543389.1:p.Gly358Arg G (Gly) > R (Arg) Missense Variant
PC transcript variant X11 XM_006718579.4:c.847G>A G [GGA] > R [AGA] Coding Sequence Variant
pyruvate carboxylase, mitochondrial isoform X3 XP_006718642.1:p.Gly283Arg G (Gly) > R (Arg) Missense Variant
PC transcript variant X12 XM_047427058.1:c.847G>A G [GGA] > R [AGA] Coding Sequence Variant
pyruvate carboxylase, mitochondrial isoform X3 XP_047283014.1:p.Gly283Arg G (Gly) > R (Arg) 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 C= T
GRCh38.p14 chr 11 NC_000011.10:g.66850779= NC_000011.10:g.66850779C>T
GRCh37.p13 chr 11 NC_000011.9:g.66618250= NC_000011.9:g.66618250C>T
PC RefSeqGene NG_008319.1:g.112598= NG_008319.1:g.112598G>A
PC transcript variant 1 NM_000920.4:c.2368= NM_000920.4:c.2368G>A
PC transcript variant 1 NM_000920.3:c.2368= NM_000920.3:c.2368G>A
PC transcript variant 2 NM_022172.3:c.2368= NM_022172.3:c.2368G>A
PC transcript variant 2 NM_022172.2:c.2368= NM_022172.2:c.2368G>A
PC transcript variant 3 NM_001040716.2:c.2368= NM_001040716.2:c.2368G>A
PC transcript variant 3 NM_001040716.1:c.2368= NM_001040716.1:c.2368G>A
PC transcript variant X9 XM_005274032.5:c.2368= XM_005274032.5:c.2368G>A
PC transcript variant X8 XM_005274032.4:c.2368= XM_005274032.4:c.2368G>A
PC transcript variant X4 XM_005274032.3:c.2368= XM_005274032.3:c.2368G>A
PC transcript variant X3 XM_005274032.2:c.2368= XM_005274032.2:c.2368G>A
PC transcript variant X3 XM_005274032.1:c.2368= XM_005274032.1:c.2368G>A
PC transcript variant X8 XM_005274031.5:c.2368= XM_005274031.5:c.2368G>A
PC transcript variant X7 XM_005274031.4:c.2368= XM_005274031.4:c.2368G>A
PC transcript variant X2 XM_005274031.3:c.2368= XM_005274031.3:c.2368G>A
PC transcript variant X2 XM_005274031.2:c.2368= XM_005274031.2:c.2368G>A
PC transcript variant X2 XM_005274031.1:c.2368= XM_005274031.1:c.2368G>A
PC transcript variant X5 XM_006718578.4:c.2368= XM_006718578.4:c.2368G>A
PC transcript variant X5 XM_006718578.3:c.2368= XM_006718578.3:c.2368G>A
PC transcript variant X5 XM_006718578.2:c.2368= XM_006718578.2:c.2368G>A
PC transcript variant X5 XM_006718578.1:c.2368= XM_006718578.1:c.2368G>A
PC transcript variant X11 XM_006718579.4:c.847= XM_006718579.4:c.847G>A
PC transcript variant X11 XM_006718579.3:c.847= XM_006718579.3:c.847G>A
PC transcript variant X9 XM_006718579.2:c.847= XM_006718579.2:c.847G>A
PC transcript variant X6 XM_006718579.1:c.847= XM_006718579.1:c.847G>A
PC transcript variant X6 XM_017017872.3:c.2368= XM_017017872.3:c.2368G>A
PC transcript variant X6 XM_017017872.2:c.2368= XM_017017872.2:c.2368G>A
PC transcript variant X6 XM_017017872.1:c.2368= XM_017017872.1:c.2368G>A
PC transcript variant X4 XM_011545086.3:c.2368= XM_011545086.3:c.2368G>A
PC transcript variant X9 XM_011545086.2:c.2368= XM_011545086.2:c.2368G>A
PC transcript variant X6 XM_011545086.1:c.2368= XM_011545086.1:c.2368G>A
PC transcript variant X10 XM_011545087.3:c.1072= XM_011545087.3:c.1072G>A
PC transcript variant X10 XM_011545087.2:c.1072= XM_011545087.2:c.1072G>A
PC transcript variant X7 XM_011545087.1:c.1072= XM_011545087.1:c.1072G>A
PC transcript variant X2 XM_017017868.2:c.2368= XM_017017868.2:c.2368G>A
PC transcript variant X1 XM_017017868.1:c.2368= XM_017017868.1:c.2368G>A
PC transcript variant X7 XM_017017869.2:c.2368= XM_017017869.2:c.2368G>A
PC transcript variant X2 XM_017017869.1:c.2368= XM_017017869.1:c.2368G>A
PC transcript variant X1 XM_017017870.2:c.2368= XM_017017870.2:c.2368G>A
PC transcript variant X3 XM_017017870.1:c.2368= XM_017017870.1:c.2368G>A
PC transcript variant X3 XM_017017871.2:c.2368= XM_017017871.2:c.2368G>A
PC transcript variant X4 XM_017017871.1:c.2368= XM_017017871.1:c.2368G>A
PC transcript variant X12 XM_047427058.1:c.847= XM_047427058.1:c.847G>A
pyruvate carboxylase, mitochondrial precursor NP_000911.2:p.Gly790= NP_000911.2:p.Gly790Arg
pyruvate carboxylase, mitochondrial precursor NP_071504.2:p.Gly790= NP_071504.2:p.Gly790Arg
pyruvate carboxylase, mitochondrial precursor NP_001035806.1:p.Gly790= NP_001035806.1:p.Gly790Arg
pyruvate carboxylase, mitochondrial isoform X1 XP_005274089.1:p.Gly790= XP_005274089.1:p.Gly790Arg
pyruvate carboxylase, mitochondrial isoform X1 XP_005274088.1:p.Gly790= XP_005274088.1:p.Gly790Arg
pyruvate carboxylase, mitochondrial isoform X1 XP_006718641.1:p.Gly790= XP_006718641.1:p.Gly790Arg
pyruvate carboxylase, mitochondrial isoform X3 XP_006718642.1:p.Gly283= XP_006718642.1:p.Gly283Arg
pyruvate carboxylase, mitochondrial isoform X1 XP_016873361.1:p.Gly790= XP_016873361.1:p.Gly790Arg
pyruvate carboxylase, mitochondrial isoform X1 XP_011543388.1:p.Gly790= XP_011543388.1:p.Gly790Arg
pyruvate carboxylase, mitochondrial isoform X2 XP_011543389.1:p.Gly358= XP_011543389.1:p.Gly358Arg
pyruvate carboxylase, mitochondrial isoform X1 XP_016873357.1:p.Gly790= XP_016873357.1:p.Gly790Arg
pyruvate carboxylase, mitochondrial isoform X1 XP_016873358.1:p.Gly790= XP_016873358.1:p.Gly790Arg
pyruvate carboxylase, mitochondrial isoform X1 XP_016873359.1:p.Gly790= XP_016873359.1:p.Gly790Arg
pyruvate carboxylase, mitochondrial isoform X1 XP_016873360.1:p.Gly790= XP_016873360.1:p.Gly790Arg
pyruvate carboxylase, mitochondrial isoform X3 XP_047283014.1:p.Gly283= XP_047283014.1:p.Gly283Arg
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#.

1 SubSNP, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2739168679 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000011.9 - 66618250 Jul 13, 2019 (153)
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
8384561, ss2739168679 NC_000011.9:66618249:C:T NC_000011.10:66850778:C:T (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 rs1478432050

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