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rs515726157

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs515726157(C;C)
Make rs515726157(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position109792704
GeneTRPV4
is asnp
is mentioned by
dbSNPrs515726157
dbSNP (classic)rs515726157
ClinGenrs515726157
ebirs515726157
HLIrs515726157
Exacrs515726157
Gnomadrs515726157
Varsomers515726157
LitVarrs515726157
Maprs515726157
PheGenIrs515726157
Biobankrs515726157
1000 genomesrs515726157
hgdprs515726157
ensemblrs515726157
geneviewrs515726157
scholarrs515726157
googlers515726157
pharmgkbrs515726157
gwascentralrs515726157
openSNPrs515726157
23andMers515726157
SNPshotrs515726157
SNPdbers515726157
MSV3drs515726157
GWAS Ctlgrs515726157
Max Magnitude0
ClinVar
Risk rs515726157(C;C)
Alt rs515726157(C;C)
Reference Rs515726157(T;T)
Significance Pathogenic
Disease Neuromuscular Diseases Skeletal dysplasia
Variation info
Gene TRPV4
CLNDBN Neuromuscular Diseases Skeletal dysplasia
Reversed 0
HGVS NC_000012.11:g.110230509T>C
CLNSRC
CLNACC RCV000202487.1,