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rs397514473

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514473(C;T)
Make rs397514473(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position109814531
GeneTRPV4
is asnp
is mentioned by
dbSNPrs397514473
ebirs397514473
HLIrs397514473
Exacrs397514473
Varsomers397514473
Maprs397514473
PheGenIrs397514473
hapmaprs397514473
1000 genomesrs397514473
hgdprs397514473
ensemblrs397514473
gopubmedrs397514473
geneviewrs397514473
scholarrs397514473
googlers397514473
pharmgkbrs397514473
gwascentralrs397514473
openSNPrs397514473
23andMers397514473
23andMe allrs397514473
SNP Nexus

SNPshotrs397514473
SNPdbers397514473
MSV3drs397514473
GWAS Ctlgrs397514473
Max Magnitude0
ClinVar
Risk rs397514473(T;T)
Alt rs397514473(T;T)
Reference rs397514473(C;C)
Significance Pathogenic
Disease Metatrophic dysplasia Skeletal dysplasia
Variation info
Gene TRPV4
CLNDBN Metatrophic dysplasia Skeletal dysplasia
Reversed 1
HGVS NC_000012.11:g.110252336G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023427.2, RCV000202521.1,