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rs387906906

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906906(C;T)
Make rs387906906(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position109786827
GeneTRPV4
is asnp
is mentioned by
dbSNPrs387906906
ebirs387906906
HLIrs387906906
Exacrs387906906
Varsomers387906906
Maprs387906906
PheGenIrs387906906
hapmaprs387906906
1000 genomesrs387906906
hgdprs387906906
ensemblrs387906906
gopubmedrs387906906
geneviewrs387906906
scholarrs387906906
googlers387906906
pharmgkbrs387906906
gwascentralrs387906906
openSNPrs387906906
23andMers387906906
23andMe allrs387906906
SNP Nexus

SNPshotrs387906906
SNPdbers387906906
MSV3drs387906906
GWAS Ctlgrs387906906
Max Magnitude0
ClinVar
Risk rs387906906(T;T)
Alt rs387906906(T;T)
Reference rs387906906(C;C)
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.110224632G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023432.2, RCV000202544.1,