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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.

rs1469157065

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:144501873 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000007 (1/148646, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PPP1R16A : Synonymous Variant
GPT : 2KB Upstream Variant
LOC101928953 : Intron 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 148646 G=0.999993 T=0.000007
gnomAD - Exomes European Sub 68686 G=0.99999 T=0.00001
gnomAD - Exomes Asian Sub 34272 G=1.00000 T=0.00000
gnomAD - Exomes American Sub 24904 G=1.00000 T=0.00000
gnomAD - Exomes African Sub 8320 G=1.0000 T=0.0000
gnomAD - Exomes Ashkenazi Jewish Sub 8208 G=1.0000 T=0.0000
gnomAD - Exomes Other Sub 4256 G=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 8 NC_000008.11:g.144501873G>T
GRCh37.p13 chr 8 NC_000008.10:g.145727256G>T
GPT RefSeqGene NG_015828.1:g.2792G>T
Gene: GPT, glutamic--pyruvic transaminase (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
GPT transcript variant 2 NM_001382664.1:c. N/A Upstream Transcript Variant
GPT transcript variant 3 NM_001382665.1:c. N/A Upstream Transcript Variant
GPT transcript NM_005309.3:c. N/A N/A
GPT transcript variant 4 NR_168476.1:n. N/A N/A
GPT transcript variant 5 NR_168477.1:n. N/A N/A
Gene: PPP1R16A, protein phosphatase 1 regulatory subunit 16A (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PPP1R16A transcript variant 1 NM_032902.7:c.1557G>T V [GTG] > V [GTT] Coding Sequence Variant
protein phosphatase 1 regulatory subunit 16A NP_116291.1:p.Val519= V (Val) > V (Val) Synonymous Variant
PPP1R16A transcript variant 4 NM_001329444.2:c.1557G>T V [GTG] > V [GTT] Coding Sequence Variant
protein phosphatase 1 regulatory subunit 16A NP_001316373.1:p.Val519= V (Val) > V (Val) Synonymous Variant
PPP1R16A transcript variant 5 NM_001329445.2:c.1557G>T V [GTG] > V [GTT] Coding Sequence Variant
protein phosphatase 1 regulatory subunit 16A NP_001316374.1:p.Val519= V (Val) > V (Val) Synonymous Variant
PPP1R16A transcript variant 2 NM_001329442.2:c.1557G>T V [GTG] > V [GTT] Coding Sequence Variant
protein phosphatase 1 regulatory subunit 16A NP_001316371.1:p.Val519= V (Val) > V (Val) Synonymous Variant
PPP1R16A transcript variant 3 NM_001329443.2:c.1557G>T V [GTG] > V [GTT] Coding Sequence Variant
protein phosphatase 1 regulatory subunit 16A NP_001316372.1:p.Val519= V (Val) > V (Val) Synonymous Variant
PPP1R16A transcript variant X1 XM_047422331.1:c.1779G>T V [GTG] > V [GTT] Coding Sequence Variant
protein phosphatase 1 regulatory subunit 16A isoform X1 XP_047278287.1:p.Val593= V (Val) > V (Val) Synonymous Variant
PPP1R16A transcript variant X2 XM_047422332.1:c.1779G>T V [GTG] > V [GTT] Coding Sequence Variant
protein phosphatase 1 regulatory subunit 16A isoform X1 XP_047278288.1:p.Val593= V (Val) > V (Val) Synonymous Variant
PPP1R16A transcript variant X3 XM_047422334.1:c.1779G>T V [GTG] > V [GTT] Coding Sequence Variant
protein phosphatase 1 regulatory subunit 16A isoform X1 XP_047278290.1:p.Val593= V (Val) > V (Val) Synonymous Variant
PPP1R16A transcript variant X4 XM_047422335.1:c.1779G>T V [GTG] > V [GTT] Coding Sequence Variant
protein phosphatase 1 regulatory subunit 16A isoform X1 XP_047278291.1:p.Val593= V (Val) > V (Val) Synonymous Variant
PPP1R16A transcript variant X5 XM_047422336.1:c.1779G>T V [GTG] > V [GTT] Coding Sequence Variant
protein phosphatase 1 regulatory subunit 16A isoform X1 XP_047278292.1:p.Val593= V (Val) > V (Val) Synonymous Variant
PPP1R16A transcript variant X6 XM_047422337.1:c.1779G>T V [GTG] > V [GTT] Coding Sequence Variant
protein phosphatase 1 regulatory subunit 16A isoform X1 XP_047278293.1:p.Val593= V (Val) > V (Val) Synonymous Variant
PPP1R16A transcript variant X7 XM_047422338.1:c.1779G>T V [GTG] > V [GTT] Coding Sequence Variant
protein phosphatase 1 regulatory subunit 16A isoform X1 XP_047278294.1:p.Val593= V (Val) > V (Val) Synonymous Variant
PPP1R16A transcript variant X8 XM_047422339.1:c.1779G>T V [GTG] > V [GTT] Coding Sequence Variant
protein phosphatase 1 regulatory subunit 16A isoform X1 XP_047278295.1:p.Val593= V (Val) > V (Val) Synonymous Variant
PPP1R16A transcript variant X9 XM_047422340.1:c.1590G>T V [GTG] > V [GTT] Coding Sequence Variant
protein phosphatase 1 regulatory subunit 16A isoform X2 XP_047278296.1:p.Val530= V (Val) > V (Val) Synonymous Variant
PPP1R16A transcript variant X10 XM_047422341.1:c.1590G>T V [GTG] > V [GTT] Coding Sequence Variant
protein phosphatase 1 regulatory subunit 16A isoform X2 XP_047278297.1:p.Val530= V (Val) > V (Val) Synonymous Variant
PPP1R16A transcript variant X11 XM_047422342.1:c.1590G>T V [GTG] > V [GTT] Coding Sequence Variant
protein phosphatase 1 regulatory subunit 16A isoform X2 XP_047278298.1:p.Val530= V (Val) > V (Val) Synonymous Variant
PPP1R16A transcript variant X12 XM_047422343.1:c.1557G>T V [GTG] > V [GTT] Coding Sequence Variant
protein phosphatase 1 regulatory subunit 16A isoform X3 XP_047278299.1:p.Val519= V (Val) > V (Val) Synonymous Variant
PPP1R16A transcript variant X13 XM_047422345.1:c.1557G>T V [GTG] > V [GTT] Coding Sequence Variant
protein phosphatase 1 regulatory subunit 16A isoform X3 XP_047278301.1:p.Val519= V (Val) > V (Val) Synonymous Variant
PPP1R16A transcript variant X14 XM_047422346.1:c.1557G>T V [GTG] > V [GTT] Coding Sequence Variant
protein phosphatase 1 regulatory subunit 16A isoform X3 XP_047278302.1:p.Val519= V (Val) > V (Val) Synonymous Variant
PPP1R16A transcript variant X15 XM_047422347.1:c.1368G>T V [GTG] > V [GTT] Coding Sequence Variant
protein phosphatase 1 regulatory subunit 16A isoform X4 XP_047278303.1:p.Val456= V (Val) > V (Val) Synonymous Variant
PPP1R16A transcript variant X16 XM_047422348.1:c.1368G>T V [GTG] > V [GTT] Coding Sequence Variant
protein phosphatase 1 regulatory subunit 16A isoform X4 XP_047278304.1:p.Val456= V (Val) > V (Val) Synonymous Variant
PPP1R16A transcript variant X17 XM_047422349.1:c.1368G>T V [GTG] > V [GTT] Coding Sequence Variant
protein phosphatase 1 regulatory subunit 16A isoform X4 XP_047278305.1:p.Val456= V (Val) > V (Val) Synonymous Variant
PPP1R16A transcript variant X18 XM_047422350.1:c.1368G>T V [GTG] > V [GTT] Coding Sequence Variant
protein phosphatase 1 regulatory subunit 16A isoform X4 XP_047278306.1:p.Val456= V (Val) > V (Val) Synonymous Variant
PPP1R16A transcript variant X19 XM_047422351.1:c.1368G>T V [GTG] > V [GTT] Coding Sequence Variant
protein phosphatase 1 regulatory subunit 16A isoform X4 XP_047278307.1:p.Val456= V (Val) > V (Val) Synonymous Variant
PPP1R16A transcript variant X20 XM_047422352.1:c.1368G>T V [GTG] > V [GTT] Coding Sequence Variant
protein phosphatase 1 regulatory subunit 16A isoform X4 XP_047278308.1:p.Val456= V (Val) > V (Val) Synonymous Variant
Gene: LOC101928953, uncharacterized LOC101928953 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC101928953 transcript variant X1 XR_007061146.1:n. N/A Intron Variant
LOC101928953 transcript variant X2 XR_007061147.1:n. N/A Intron Variant
LOC101928953 transcript variant X3 XR_007061148.1:n. N/A Intron Variant
LOC101928953 transcript variant X4 XR_007061149.1:n. N/A Intron Variant
LOC101928953 transcript variant X5 XR_007061150.1:n. N/A Intron 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= T
GRCh38.p14 chr 8 NC_000008.11:g.144501873= NC_000008.11:g.144501873G>T
GRCh37.p13 chr 8 NC_000008.10:g.145727256= NC_000008.10:g.145727256G>T
GPT RefSeqGene NG_015828.1:g.2792= NG_015828.1:g.2792G>T
PPP1R16A transcript variant 1 NM_032902.7:c.1557= NM_032902.7:c.1557G>T
PPP1R16A transcript variant 1 NM_032902.6:c.1557= NM_032902.6:c.1557G>T
PPP1R16A transcript NM_032902.5:c.1557= NM_032902.5:c.1557G>T
PPP1R16A transcript variant 2 NM_001329442.2:c.1557= NM_001329442.2:c.1557G>T
PPP1R16A transcript variant 2 NM_001329442.1:c.1557= NM_001329442.1:c.1557G>T
PPP1R16A transcript variant 4 NM_001329444.2:c.1557= NM_001329444.2:c.1557G>T
PPP1R16A transcript variant 4 NM_001329444.1:c.1557= NM_001329444.1:c.1557G>T
PPP1R16A transcript variant 5 NM_001329445.2:c.1557= NM_001329445.2:c.1557G>T
PPP1R16A transcript variant 5 NM_001329445.1:c.1557= NM_001329445.1:c.1557G>T
PPP1R16A transcript variant 3 NM_001329443.2:c.1557= NM_001329443.2:c.1557G>T
PPP1R16A transcript variant 3 NM_001329443.1:c.1557= NM_001329443.1:c.1557G>T
PPP1R16A transcript variant X6 XM_047422337.1:c.1779= XM_047422337.1:c.1779G>T
PPP1R16A transcript variant X7 XM_047422338.1:c.1779= XM_047422338.1:c.1779G>T
PPP1R16A transcript variant X3 XM_047422334.1:c.1779= XM_047422334.1:c.1779G>T
PPP1R16A transcript variant X4 XM_047422335.1:c.1779= XM_047422335.1:c.1779G>T
PPP1R16A transcript variant X5 XM_047422336.1:c.1779= XM_047422336.1:c.1779G>T
PPP1R16A transcript variant X2 XM_047422332.1:c.1779= XM_047422332.1:c.1779G>T
PPP1R16A transcript variant X1 XM_047422331.1:c.1779= XM_047422331.1:c.1779G>T
PPP1R16A transcript variant X10 XM_047422341.1:c.1590= XM_047422341.1:c.1590G>T
PPP1R16A transcript variant X11 XM_047422342.1:c.1590= XM_047422342.1:c.1590G>T
PPP1R16A transcript variant X13 XM_047422345.1:c.1557= XM_047422345.1:c.1557G>T
PPP1R16A transcript variant X9 XM_047422340.1:c.1590= XM_047422340.1:c.1590G>T
PPP1R16A transcript variant X12 XM_047422343.1:c.1557= XM_047422343.1:c.1557G>T
PPP1R16A transcript variant X18 XM_047422350.1:c.1368= XM_047422350.1:c.1368G>T
PPP1R16A transcript variant X8 XM_047422339.1:c.1779= XM_047422339.1:c.1779G>T
PPP1R16A transcript variant X19 XM_047422351.1:c.1368= XM_047422351.1:c.1368G>T
PPP1R16A transcript variant X17 XM_047422349.1:c.1368= XM_047422349.1:c.1368G>T
PPP1R16A transcript variant X16 XM_047422348.1:c.1368= XM_047422348.1:c.1368G>T
PPP1R16A transcript variant X15 XM_047422347.1:c.1368= XM_047422347.1:c.1368G>T
PPP1R16A transcript variant X14 XM_047422346.1:c.1557= XM_047422346.1:c.1557G>T
PPP1R16A transcript variant X20 XM_047422352.1:c.1368= XM_047422352.1:c.1368G>T
protein phosphatase 1 regulatory subunit 16A NP_116291.1:p.Val519= NP_116291.1:p.Val519=
protein phosphatase 1 regulatory subunit 16A NP_001316371.1:p.Val519= NP_001316371.1:p.Val519=
protein phosphatase 1 regulatory subunit 16A NP_001316373.1:p.Val519= NP_001316373.1:p.Val519=
protein phosphatase 1 regulatory subunit 16A NP_001316374.1:p.Val519= NP_001316374.1:p.Val519=
protein phosphatase 1 regulatory subunit 16A NP_001316372.1:p.Val519= NP_001316372.1:p.Val519=
protein phosphatase 1 regulatory subunit 16A isoform X1 XP_047278293.1:p.Val593= XP_047278293.1:p.Val593=
protein phosphatase 1 regulatory subunit 16A isoform X1 XP_047278294.1:p.Val593= XP_047278294.1:p.Val593=
protein phosphatase 1 regulatory subunit 16A isoform X1 XP_047278290.1:p.Val593= XP_047278290.1:p.Val593=
protein phosphatase 1 regulatory subunit 16A isoform X1 XP_047278291.1:p.Val593= XP_047278291.1:p.Val593=
protein phosphatase 1 regulatory subunit 16A isoform X1 XP_047278292.1:p.Val593= XP_047278292.1:p.Val593=
protein phosphatase 1 regulatory subunit 16A isoform X1 XP_047278288.1:p.Val593= XP_047278288.1:p.Val593=
protein phosphatase 1 regulatory subunit 16A isoform X1 XP_047278287.1:p.Val593= XP_047278287.1:p.Val593=
protein phosphatase 1 regulatory subunit 16A isoform X2 XP_047278297.1:p.Val530= XP_047278297.1:p.Val530=
protein phosphatase 1 regulatory subunit 16A isoform X2 XP_047278298.1:p.Val530= XP_047278298.1:p.Val530=
protein phosphatase 1 regulatory subunit 16A isoform X3 XP_047278301.1:p.Val519= XP_047278301.1:p.Val519=
protein phosphatase 1 regulatory subunit 16A isoform X2 XP_047278296.1:p.Val530= XP_047278296.1:p.Val530=
protein phosphatase 1 regulatory subunit 16A isoform X3 XP_047278299.1:p.Val519= XP_047278299.1:p.Val519=
protein phosphatase 1 regulatory subunit 16A isoform X4 XP_047278306.1:p.Val456= XP_047278306.1:p.Val456=
protein phosphatase 1 regulatory subunit 16A isoform X1 XP_047278295.1:p.Val593= XP_047278295.1:p.Val593=
protein phosphatase 1 regulatory subunit 16A isoform X4 XP_047278307.1:p.Val456= XP_047278307.1:p.Val456=
protein phosphatase 1 regulatory subunit 16A isoform X4 XP_047278305.1:p.Val456= XP_047278305.1:p.Val456=
protein phosphatase 1 regulatory subunit 16A isoform X4 XP_047278304.1:p.Val456= XP_047278304.1:p.Val456=
protein phosphatase 1 regulatory subunit 16A isoform X4 XP_047278303.1:p.Val456= XP_047278303.1:p.Val456=
protein phosphatase 1 regulatory subunit 16A isoform X3 XP_047278302.1:p.Val519= XP_047278302.1:p.Val519=
protein phosphatase 1 regulatory subunit 16A isoform X4 XP_047278308.1:p.Val456= XP_047278308.1:p.Val456=
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 ss2737449433 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000008.10 - 145727256 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
6624328, ss2737449433 NC_000008.10:145727255:G:T NC_000008.11:144501872:G: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 rs1469157065

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