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rs387906902

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906902(A;A)
Make rs387906902(A;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position109793560
GeneTRPV4
is asnp
is mentioned by
dbSNPrs387906902
ebirs387906902
HLIrs387906902
Exacrs387906902
Varsomers387906902
Maprs387906902
PheGenIrs387906902
hapmaprs387906902
1000 genomesrs387906902
hgdprs387906902
ensemblrs387906902
gopubmedrs387906902
geneviewrs387906902
scholarrs387906902
googlers387906902
pharmgkbrs387906902
gwascentralrs387906902
openSNPrs387906902
23andMers387906902
23andMe allrs387906902
SNP Nexus

SNPshotrs387906902
SNPdbers387906902
MSV3drs387906902
GWAS Ctlgrs387906902
Max Magnitude0
ClinVar
Risk rs387906902(A;A)
Alt rs387906902(A;A)
Reference rs387906902(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2C Neuromuscular Diseases Skeletal dysplasia
Variation info
Gene TRPV4
CLNDBN Charcot-Marie-Tooth disease type 2C Neuromuscular Diseases Skeletal dysplasia
Reversed 1
HGVS NC_000012.11:g.110231365G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023426.2, RCV000202508.1,