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rs515726152

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs515726152(A;A)
Make rs515726152(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position109798742
GeneTRPV4
is asnp
is mentioned by
dbSNPrs515726152
dbSNP (classic)rs515726152
ClinGenrs515726152
ebirs515726152
HLIrs515726152
Exacrs515726152
Gnomadrs515726152
Varsomers515726152
LitVarrs515726152
Maprs515726152
PheGenIrs515726152
Biobankrs515726152
1000 genomesrs515726152
hgdprs515726152
ensemblrs515726152
geneviewrs515726152
scholarrs515726152
googlers515726152
pharmgkbrs515726152
gwascentralrs515726152
openSNPrs515726152
23andMers515726152
SNPshotrs515726152
SNPdbers515726152
MSV3drs515726152
GWAS Ctlgrs515726152
Max Magnitude0
ClinVar
Risk rs515726152(A;A)
Alt rs515726152(A;A)
Reference Rs515726152(C;C)
Significance Pathogenic
Disease Skeletal dysplasia
Variation info
Gene TRPV4
CLNDBN Skeletal dysplasia
Reversed 0
HGVS NC_000012.11:g.110236547C>A
CLNSRC UniProtKB (protein)
CLNACC RCV000202456.1,