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rs387906905

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906905(A;A)
Make rs387906905(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position109798819
GeneTRPV4
is asnp
is mentioned by
dbSNPrs387906905
ebirs387906905
HLIrs387906905
Exacrs387906905
Varsomers387906905
Maprs387906905
PheGenIrs387906905
hapmaprs387906905
1000 genomesrs387906905
hgdprs387906905
ensemblrs387906905
gopubmedrs387906905
geneviewrs387906905
scholarrs387906905
googlers387906905
pharmgkbrs387906905
gwascentralrs387906905
openSNPrs387906905
23andMers387906905
23andMe allrs387906905
SNP Nexus

SNPshotrs387906905
SNPdbers387906905
MSV3drs387906905
GWAS Ctlgrs387906905
Max Magnitude0
ClinVar
Risk rs387906905(A;A)
Alt rs387906905(A;A)
Reference rs387906905(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2C Neuromuscular Diseases
Variation info
Gene TRPV4
CLNDBN Charcot-Marie-Tooth disease type 2C Neuromuscular Diseases
Reversed 1
HGVS NC_000012.11:g.110236624C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023430.2, RCV000202476.1,