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rs515726169

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs515726169(C;G)
Make rs515726169(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position109800754
GeneTRPV4
is asnp
is mentioned by
dbSNPrs515726169
dbSNP (classic)rs515726169
ClinGenrs515726169
ebirs515726169
HLIrs515726169
Exacrs515726169
Gnomadrs515726169
Varsomers515726169
LitVarrs515726169
Maprs515726169
PheGenIrs515726169
Biobankrs515726169
1000 genomesrs515726169
hgdprs515726169
ensemblrs515726169
geneviewrs515726169
scholarrs515726169
googlers515726169
pharmgkbrs515726169
gwascentralrs515726169
openSNPrs515726169
23andMers515726169
SNPshotrs515726169
SNPdbers515726169
MSV3drs515726169
GWAS Ctlgrs515726169
Max Magnitude0
ClinVar
Risk rs515726169(G;G)
Alt rs515726169(G;G)
Reference Rs515726169(C;C)
Significance Pathogenic
Disease Skeletal dysplasia
Variation info
Gene TRPV4
CLNDBN Skeletal dysplasia
Reversed 0
HGVS NC_000012.11:g.110238559C>G
CLNSRC
CLNACC RCV000202497.1,