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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.

rs1477186513

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr16:69931192 (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 (1/251486, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
WWP2 : Missense Variant
MIR140 : 2KB Upstream 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 251486 C=0.999996 T=0.000004
gnomAD - Exomes European Sub 135412 C=0.999993 T=0.000007
gnomAD - Exomes Asian Sub 49010 C=1.00000 T=0.00000
gnomAD - Exomes American Sub 34592 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 16256 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10078 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6138 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 16 NC_000016.10:g.69931192C>T
GRCh37.p13 chr 16 NC_000016.9:g.69965095C>T
Gene: WWP2, WW domain containing E3 ubiquitin protein ligase 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
WWP2 transcript variant 6 NM_001270455.2:c. N/A Genic Downstream Transcript Variant
WWP2 transcript variant 2 NM_199424.3:c.169C>T R [CGG] > W [TGG] Coding Sequence Variant
NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform WWP2-C NP_955456.1:p.Arg57Trp R (Arg) > W (Trp) Missense Variant
WWP2 transcript variant 5 NM_001270454.2:c.1486C>T R [CGG] > W [TGG] Coding Sequence Variant
NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform WWP2-FL NP_001257383.1:p.Arg496Trp R (Arg) > W (Trp) Missense Variant
WWP2 transcript variant 1 NM_007014.5:c.1486C>T R [CGG] > W [TGG] Coding Sequence Variant
NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform WWP2-FL NP_008945.2:p.Arg496Trp R (Arg) > W (Trp) Missense Variant
WWP2 transcript variant 4 NM_001270453.2:c.1138C>T R [CGG] > W [TGG] Coding Sequence Variant
NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4 NP_001257382.1:p.Arg380Trp R (Arg) > W (Trp) Missense Variant
WWP2 transcript variant X1 XM_017022879.2:c.1486C>T R [CGG] > W [TGG] Coding Sequence Variant
NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform X1 XP_016878368.1:p.Arg496Trp R (Arg) > W (Trp) Missense Variant
WWP2 transcript variant X2 XM_017022881.2:c.1486C>T R [CGG] > W [TGG] Coding Sequence Variant
NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform X1 XP_016878370.1:p.Arg496Trp R (Arg) > W (Trp) Missense Variant
WWP2 transcript variant X3 XM_011522823.3:c.1486C>T R [CGG] > W [TGG] Coding Sequence Variant
NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform X1 XP_011521125.1:p.Arg496Trp R (Arg) > W (Trp) Missense Variant
WWP2 transcript variant X4 XM_047433520.1:c.1486C>T R [CGG] > W [TGG] Coding Sequence Variant
NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform X1 XP_047289476.1:p.Arg496Trp R (Arg) > W (Trp) Missense Variant
WWP2 transcript variant X5 XM_047433521.1:c.1486C>T R [CGG] > W [TGG] Coding Sequence Variant
NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform X1 XP_047289477.1:p.Arg496Trp R (Arg) > W (Trp) Missense Variant
WWP2 transcript variant X6 XM_047433522.1:c.1486C>T R [CGG] > W [TGG] Coding Sequence Variant
NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform X1 XP_047289478.1:p.Arg496Trp R (Arg) > W (Trp) Missense Variant
WWP2 transcript variant X7 XM_011522825.2:c.1486C>T R [CGG] > W [TGG] Coding Sequence Variant
NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform X1 XP_011521127.1:p.Arg496Trp R (Arg) > W (Trp) Missense Variant
WWP2 transcript variant X8 XM_047433523.1:c.1486C>T R [CGG] > W [TGG] Coding Sequence Variant
NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform X1 XP_047289479.1:p.Arg496Trp R (Arg) > W (Trp) Missense Variant
WWP2 transcript variant X9 XM_017022880.2:c.1486C>T R [CGG] > W [TGG] Coding Sequence Variant
NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform X1 XP_016878369.1:p.Arg496Trp R (Arg) > W (Trp) Missense Variant
WWP2 transcript variant X10 XM_011522826.4:c.1138C>T R [CGG] > W [TGG] Coding Sequence Variant
NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform X2 XP_011521128.1:p.Arg380Trp R (Arg) > W (Trp) Missense Variant
WWP2 transcript variant X11 XM_047433524.1:c.1138C>T R [CGG] > W [TGG] Coding Sequence Variant
NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform X2 XP_047289480.1:p.Arg380Trp R (Arg) > W (Trp) Missense Variant
Gene: MIR140, microRNA 140 (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
MIR140 transcript NR_029681.1: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.

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 16 NC_000016.10:g.69931192= NC_000016.10:g.69931192C>T
GRCh37.p13 chr 16 NC_000016.9:g.69965095= NC_000016.9:g.69965095C>T
WWP2 transcript variant 1 NM_007014.5:c.1486= NM_007014.5:c.1486C>T
WWP2 transcript variant 1 NM_007014.4:c.1486= NM_007014.4:c.1486C>T
WWP2 transcript variant X10 XM_011522826.4:c.1138= XM_011522826.4:c.1138C>T
WWP2 transcript variant X6 XM_011522826.3:c.1138= XM_011522826.3:c.1138C>T
WWP2 transcript variant X6 XM_011522826.2:c.1138= XM_011522826.2:c.1138C>T
WWP2 transcript variant X4 XM_011522826.1:c.1138= XM_011522826.1:c.1138C>T
WWP2 transcript variant X3 XM_011522823.3:c.1486= XM_011522823.3:c.1486C>T
WWP2 transcript variant X3 XM_011522823.2:c.1486= XM_011522823.2:c.1486C>T
WWP2 transcript variant X1 XM_011522823.1:c.1486= XM_011522823.1:c.1486C>T
WWP2 transcript variant 2 NM_199424.3:c.169= NM_199424.3:c.169C>T
WWP2 transcript variant 2 NM_199424.2:c.169= NM_199424.2:c.169C>T
WWP2 transcript variant X1 XM_017022879.2:c.1486= XM_017022879.2:c.1486C>T
WWP2 transcript variant X1 XM_017022879.1:c.1486= XM_017022879.1:c.1486C>T
WWP2 transcript variant X2 XM_017022881.2:c.1486= XM_017022881.2:c.1486C>T
WWP2 transcript variant X4 XM_017022881.1:c.1486= XM_017022881.1:c.1486C>T
WWP2 transcript variant X9 XM_017022880.2:c.1486= XM_017022880.2:c.1486C>T
WWP2 transcript variant X2 XM_017022880.1:c.1486= XM_017022880.1:c.1486C>T
WWP2 transcript variant 5 NM_001270454.2:c.1486= NM_001270454.2:c.1486C>T
WWP2 transcript variant 5 NM_001270454.1:c.1486= NM_001270454.1:c.1486C>T
WWP2 transcript variant X7 XM_011522825.2:c.1486= XM_011522825.2:c.1486C>T
WWP2 transcript variant X5 XM_011522825.1:c.1486= XM_011522825.1:c.1486C>T
WWP2 transcript variant 4 NM_001270453.2:c.1138= NM_001270453.2:c.1138C>T
WWP2 transcript variant 4 NM_001270453.1:c.1138= NM_001270453.1:c.1138C>T
WWP2 transcript variant X4 XM_047433520.1:c.1486= XM_047433520.1:c.1486C>T
WWP2 transcript variant X6 XM_047433522.1:c.1486= XM_047433522.1:c.1486C>T
WWP2 transcript variant X8 XM_047433523.1:c.1486= XM_047433523.1:c.1486C>T
WWP2 transcript variant X5 XM_047433521.1:c.1486= XM_047433521.1:c.1486C>T
WWP2 transcript variant X11 XM_047433524.1:c.1138= XM_047433524.1:c.1138C>T
NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform WWP2-FL NP_008945.2:p.Arg496= NP_008945.2:p.Arg496Trp
NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform X2 XP_011521128.1:p.Arg380= XP_011521128.1:p.Arg380Trp
NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform X1 XP_011521125.1:p.Arg496= XP_011521125.1:p.Arg496Trp
NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform WWP2-C NP_955456.1:p.Arg57= NP_955456.1:p.Arg57Trp
NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform X1 XP_016878368.1:p.Arg496= XP_016878368.1:p.Arg496Trp
NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform X1 XP_016878370.1:p.Arg496= XP_016878370.1:p.Arg496Trp
NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform X1 XP_016878369.1:p.Arg496= XP_016878369.1:p.Arg496Trp
NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform WWP2-FL NP_001257383.1:p.Arg496= NP_001257383.1:p.Arg496Trp
NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform X1 XP_011521127.1:p.Arg496= XP_011521127.1:p.Arg496Trp
NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4 NP_001257382.1:p.Arg380= NP_001257382.1:p.Arg380Trp
NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform X1 XP_047289476.1:p.Arg496= XP_047289476.1:p.Arg496Trp
NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform X1 XP_047289478.1:p.Arg496= XP_047289478.1:p.Arg496Trp
NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform X1 XP_047289479.1:p.Arg496= XP_047289479.1:p.Arg496Trp
NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform X1 XP_047289477.1:p.Arg496= XP_047289477.1:p.Arg496Trp
NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform X2 XP_047289480.1:p.Arg380= XP_047289480.1:p.Arg380Trp
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 ss2742099624 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000016.9 - 69965095 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
11382107, ss2742099624 NC_000016.9:69965094:C:T NC_000016.10:69931191: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 rs1477186513

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