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rs387906904

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906904(C;T)
Make rs387906904(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position109803009
GeneTRPV4
is asnp
is mentioned by
dbSNPrs387906904
ebirs387906904
HLIrs387906904
Exacrs387906904
Varsomers387906904
Maprs387906904
PheGenIrs387906904
hapmaprs387906904
1000 genomesrs387906904
hgdprs387906904
ensemblrs387906904
gopubmedrs387906904
geneviewrs387906904
scholarrs387906904
googlers387906904
pharmgkbrs387906904
gwascentralrs387906904
openSNPrs387906904
23andMers387906904
23andMe allrs387906904
SNP Nexus

SNPshotrs387906904
SNPdbers387906904
MSV3drs387906904
GWAS Ctlgrs387906904
Max Magnitude0
ClinVar
Risk rs387906904(T;T)
Alt rs387906904(T;T)
Reference rs387906904(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2C Distal spinal muscular atrophy Neuromuscular Diseases Skeletal dysplasia not provided
Variation info
Gene TRPV4
CLNDBN Charcot-Marie-Tooth disease type 2C Distal spinal muscular atrophy, congenital nonprogressive Neuromuscular Diseases Skeletal dysplasia not provided
Reversed 1
HGVS NC_000012.11:g.110240814G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023429.4, RCV000190886.2, RCV000202445.1, RCV000236017.1,