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rs515726171

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs515726171(C;C)
Make rs515726171(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position109798883
GeneTRPV4
is asnp
is mentioned by
dbSNPrs515726171
ebirs515726171
HLIrs515726171
Exacrs515726171
Varsomers515726171
Maprs515726171
PheGenIrs515726171
hapmaprs515726171
1000 genomesrs515726171
hgdprs515726171
ensemblrs515726171
gopubmedrs515726171
geneviewrs515726171
scholarrs515726171
googlers515726171
pharmgkbrs515726171
gwascentralrs515726171
openSNPrs515726171
23andMers515726171
23andMe allrs515726171
SNP Nexus

SNPshotrs515726171
SNPdbers515726171
MSV3drs515726171
GWAS Ctlgrs515726171
Max Magnitude0
ClinVar
Risk rs515726171(C;C)
Alt rs515726171(C;C)
Reference rs515726171(T;T)
Significance Pathogenic
Disease Skeletal dysplasia
Variation info
Gene TRPV4
CLNDBN Skeletal dysplasia
Reversed 0
HGVS NC_000012.11:g.110236688T>C
CLNSRC
CLNACC RCV000202471.1,