Have questions? Visit https://www.reddit.com/r/SNPedia

rs515726165

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs515726165(C;T)
Make rs515726165(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position109786716
GeneTRPV4
is asnp
is mentioned by
dbSNPrs515726165
dbSNP (classic)rs515726165
ClinGenrs515726165
ebirs515726165
HLIrs515726165
Exacrs515726165
Gnomadrs515726165
Varsomers515726165
LitVarrs515726165
Maprs515726165
PheGenIrs515726165
Biobankrs515726165
1000 genomesrs515726165
hgdprs515726165
ensemblrs515726165
geneviewrs515726165
scholarrs515726165
googlers515726165
pharmgkbrs515726165
gwascentralrs515726165
openSNPrs515726165
23andMers515726165
SNPshotrs515726165
SNPdbers515726165
MSV3drs515726165
GWAS Ctlgrs515726165
Max Magnitude0
ClinVar
Risk rs515726165(T;T)
Alt rs515726165(T;T)
Reference Rs515726165(C;C)
Significance Pathogenic
Disease Skeletal dysplasia
Variation info
Gene TRPV4
CLNDBN Skeletal dysplasia
Reversed 0
HGVS NC_000012.11:g.110224521C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000202506.1,