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rs267607146

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607146(C;T)
Make rs267607146(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position109800666
GeneTRPV4
is asnp
is mentioned by
dbSNPrs267607146
ebirs267607146
HLIrs267607146
Exacrs267607146
Varsomers267607146
Maprs267607146
PheGenIrs267607146
hapmaprs267607146
1000 genomesrs267607146
hgdprs267607146
ensemblrs267607146
gopubmedrs267607146
geneviewrs267607146
scholarrs267607146
googlers267607146
pharmgkbrs267607146
gwascentralrs267607146
openSNPrs267607146
23andMers267607146
23andMe allrs267607146
SNP Nexus

SNPshotrs267607146
SNPdbers267607146
MSV3drs267607146
GWAS Ctlgrs267607146
Max Magnitude0
ClinVar
Risk rs267607146(T;T)
Alt rs267607146(T;T)
Reference rs267607146(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2C Scapuloperoneal spinal muscular atrophy Distal spinal muscular atrophy Charcot-Marie-Tooth disease Neuromuscular Diseases
Variation info
Gene TRPV4
CLNDBN Charcot-Marie-Tooth disease type 2C Scapuloperoneal spinal muscular atrophy Distal spinal muscular atrophy, congenital nonprogressive Charcot-Marie-Tooth disease Neuromuscular Diseases
Reversed 1
HGVS NC_000012.11:g.110238471G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005296.3, RCV000033215.3, RCV000190885.2, RCV000192242.1, RCV000202537.1,