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rs515726170

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs515726170(C;C)
Make rs515726170(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position109800652
GeneTRPV4
is asnp
is mentioned by
dbSNPrs515726170
dbSNP (classic)rs515726170
ClinGenrs515726170
ebirs515726170
HLIrs515726170
Exacrs515726170
Gnomadrs515726170
Varsomers515726170
LitVarrs515726170
Maprs515726170
PheGenIrs515726170
Biobankrs515726170
1000 genomesrs515726170
hgdprs515726170
ensemblrs515726170
geneviewrs515726170
scholarrs515726170
googlers515726170
pharmgkbrs515726170
gwascentralrs515726170
openSNPrs515726170
23andMers515726170
SNPshotrs515726170
SNPdbers515726170
MSV3drs515726170
GWAS Ctlgrs515726170
Max Magnitude0
ClinVar
Risk rs515726170(C;C)
Alt rs515726170(C;C)
Reference Rs515726170(G;G)
Significance Pathogenic
Disease Digital arthropathy-brachydactyly
Variation info
Gene TRPV4
CLNDBN Digital arthropathy-brachydactyly, familial
Reversed 0
HGVS NC_000012.11:g.110238457G>C
CLNSRC UniProtKB (protein)
CLNACC RCV000202455.1,