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rs515726153

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs515726153(C;C)
Make rs515726153(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position109796638
GeneTRPV4
is asnp
is mentioned by
dbSNPrs515726153
dbSNP (classic)rs515726153
ClinGenrs515726153
ebirs515726153
HLIrs515726153
Exacrs515726153
Gnomadrs515726153
Varsomers515726153
LitVarrs515726153
Maprs515726153
PheGenIrs515726153
Biobankrs515726153
1000 genomesrs515726153
hgdprs515726153
ensemblrs515726153
geneviewrs515726153
scholarrs515726153
googlers515726153
pharmgkbrs515726153
gwascentralrs515726153
openSNPrs515726153
23andMers515726153
SNPshotrs515726153
SNPdbers515726153
MSV3drs515726153
GWAS Ctlgrs515726153
Max Magnitude0
ClinVar
Risk rs515726153(C;C)
Alt rs515726153(C;C)
Reference Rs515726153(T;T)
Significance Pathogenic
Disease Skeletal dysplasia
Variation info
Gene TRPV4
CLNDBN Skeletal dysplasia
Reversed 0
HGVS NC_000012.11:g.110234443T>C
CLNSRC
CLNACC RCV000202504.1,