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rs397514474

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514474(G;T)
Make rs397514474(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position109814565
GeneTRPV4
is asnp
is mentioned by
dbSNPrs397514474
ebirs397514474
HLIrs397514474
Exacrs397514474
Varsomers397514474
Maprs397514474
PheGenIrs397514474
hapmaprs397514474
1000 genomesrs397514474
hgdprs397514474
ensemblrs397514474
gopubmedrs397514474
geneviewrs397514474
scholarrs397514474
googlers397514474
pharmgkbrs397514474
gwascentralrs397514474
openSNPrs397514474
23andMers397514474
23andMe allrs397514474
SNP Nexus

SNPshotrs397514474
SNPdbers397514474
MSV3drs397514474
GWAS Ctlgrs397514474
Max Magnitude0
ClinVar
Risk rs397514474(T;T)
Alt rs397514474(T;T)
Reference rs397514474(G;G)
Significance Pathogenic
Disease Metatrophic dysplasia Neuromuscular Diseases Skeletal dysplasia
Variation info
Gene TRPV4
CLNDBN Metatrophic dysplasia Neuromuscular Diseases Skeletal dysplasia
Reversed 1
HGVS NC_000012.11:g.110252370C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023431.2, RCV000202458.1,