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rs397514494

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514494(A;A)
Make rs397514494(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position109808298
GeneTRPV4
is asnp
is mentioned by
dbSNPrs397514494
ebirs397514494
HLIrs397514494
Exacrs397514494
Varsomers397514494
Maprs397514494
PheGenIrs397514494
hapmaprs397514494
1000 genomesrs397514494
hgdprs397514494
ensemblrs397514494
gopubmedrs397514494
geneviewrs397514494
scholarrs397514494
googlers397514494
pharmgkbrs397514494
gwascentralrs397514494
openSNPrs397514494
23andMers397514494
23andMe allrs397514494
SNP Nexus

SNPshotrs397514494
SNPdbers397514494
MSV3drs397514494
GWAS Ctlgrs397514494
Max Magnitude0
ClinVar
Risk rs397514494(A;A)
Alt rs397514494(A;A)
Reference rs397514494(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2C Distal spinal muscular atrophy Neuromuscular Diseases not provided
Variation info
Gene TRPV4
CLNDBN Charcot-Marie-Tooth disease type 2C Distal spinal muscular atrophy, congenital nonprogressive Neuromuscular Diseases not provided
Reversed 1
HGVS NC_000012.11:g.110246103C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032600.3, RCV000190887.2, RCV000202485.1, RCV000235384.1,