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rs515726167

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs515726167(C;G)
Make rs515726167(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position109803106
GeneTRPV4
is asnp
is mentioned by
dbSNPrs515726167
dbSNP (classic)rs515726167
ClinGenrs515726167
ebirs515726167
HLIrs515726167
Exacrs515726167
Gnomadrs515726167
Varsomers515726167
LitVarrs515726167
Maprs515726167
PheGenIrs515726167
Biobankrs515726167
1000 genomesrs515726167
hgdprs515726167
ensemblrs515726167
geneviewrs515726167
scholarrs515726167
googlers515726167
pharmgkbrs515726167
gwascentralrs515726167
openSNPrs515726167
23andMers515726167
SNPshotrs515726167
SNPdbers515726167
MSV3drs515726167
GWAS Ctlgrs515726167
Max Magnitude0
ClinVar
Risk rs515726167(G;G)
Alt rs515726167(G;G)
Reference Rs515726167(C;C)
Significance Pathogenic
Disease Skeletal dysplasia
Variation info
Gene TRPV4
CLNDBN Skeletal dysplasia
Reversed 0
HGVS NC_000012.11:g.110240911C>G
CLNSRC UniProtKB (protein)
CLNACC RCV000202441.1,