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rs515726160

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs515726160(A;A)
Make rs515726160(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position109792678
GeneTRPV4
is asnp
is mentioned by
dbSNPrs515726160
dbSNP (classic)rs515726160
ClinGenrs515726160
ebirs515726160
HLIrs515726160
Exacrs515726160
Gnomadrs515726160
Varsomers515726160
LitVarrs515726160
Maprs515726160
PheGenIrs515726160
Biobankrs515726160
1000 genomesrs515726160
hgdprs515726160
ensemblrs515726160
geneviewrs515726160
scholarrs515726160
googlers515726160
pharmgkbrs515726160
gwascentralrs515726160
openSNPrs515726160
23andMers515726160
SNPshotrs515726160
SNPdbers515726160
MSV3drs515726160
GWAS Ctlgrs515726160
Max Magnitude0
ClinVar
Risk rs515726160(A;A)
Alt rs515726160(A;A)
Reference Rs515726160(C;C)
Significance Pathogenic
Disease Skeletal dysplasia
Variation info
Gene TRPV4
CLNDBN Skeletal dysplasia
Reversed 0
HGVS NC_000012.11:g.110230483C>A
CLNSRC UniProtKB (protein)
CLNACC RCV000202531.1,