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rs267607145

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607145(C;T)
Make rs267607145(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position109798820
GeneTRPV4
is asnp
is mentioned by
dbSNPrs267607145
ebirs267607145
HLIrs267607145
Exacrs267607145
Varsomers267607145
Maprs267607145
PheGenIrs267607145
hapmaprs267607145
1000 genomesrs267607145
hgdprs267607145
ensemblrs267607145
gopubmedrs267607145
geneviewrs267607145
scholarrs267607145
googlers267607145
pharmgkbrs267607145
gwascentralrs267607145
openSNPrs267607145
23andMers267607145
23andMe allrs267607145
SNP Nexus

SNPshotrs267607145
SNPdbers267607145
MSV3drs267607145
GWAS Ctlgrs267607145
Max Magnitude0
ClinVar
Risk rs267607145(T;T)
Alt rs267607145(T;T)
Reference rs267607145(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2C Scapuloperoneal spinal muscular atrophy Charcot-Marie-Tooth disease Neuromuscular Diseases not provided
Variation info
Gene TRPV4
CLNDBN Charcot-Marie-Tooth disease type 2C Scapuloperoneal spinal muscular atrophy Charcot-Marie-Tooth disease Neuromuscular Diseases not provided
Reversed 1
HGVS NC_000012.11:g.110236625G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005294.2, RCV000005295.2, RCV000192245.1, RCV000202561.1, RCV000236285.1,