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rs267607143

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607143(C;T)
Make rs267607143(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position109798823
GeneTRPV4
is asnp
is mentioned by
dbSNPrs267607143
ebirs267607143
HLIrs267607143
Exacrs267607143
Varsomers267607143
Maprs267607143
PheGenIrs267607143
hapmaprs267607143
1000 genomesrs267607143
hgdprs267607143
ensemblrs267607143
gopubmedrs267607143
geneviewrs267607143
scholarrs267607143
googlers267607143
pharmgkbrs267607143
gwascentralrs267607143
openSNPrs267607143
23andMers267607143
23andMe allrs267607143
SNP Nexus

SNPshotrs267607143
SNPdbers267607143
MSV3drs267607143
GWAS Ctlgrs267607143
Max Magnitude0
ClinVar
Risk rs267607143(T;T)
Alt rs267607143(T;T)
Reference rs267607143(C;C)
Significance Pathogenic
Disease Distal spinal muscular atrophy Scapuloperoneal spinal muscular atrophy Charcot-Marie-Tooth disease type 2C Charcot-Marie-Tooth disease Neuromuscular Diseases not provided
Variation info
Gene TRPV4
CLNDBN Distal spinal muscular atrophy, congenital nonprogressive Scapuloperoneal spinal muscular atrophy Charcot-Marie-Tooth disease type 2C Charcot-Marie-Tooth disease Neuromuscular Diseases not provided
Reversed 1
HGVS NC_000012.11:g.110236628G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005289.3, RCV000005290.3, RCV000005291.4, RCV000192244.1, RCV000202514.1, RCV000236487.1,