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rs267607144

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607144(A;A)
Make rs267607144(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position109800665
GeneTRPV4
is asnp
is mentioned by
dbSNPrs267607144
ebirs267607144
HLIrs267607144
Exacrs267607144
Varsomers267607144
Maprs267607144
PheGenIrs267607144
hapmaprs267607144
1000 genomesrs267607144
hgdprs267607144
ensemblrs267607144
gopubmedrs267607144
geneviewrs267607144
scholarrs267607144
googlers267607144
pharmgkbrs267607144
gwascentralrs267607144
openSNPrs267607144
23andMers267607144
23andMe allrs267607144
SNP Nexus

SNPshotrs267607144
SNPdbers267607144
MSV3drs267607144
GWAS Ctlgrs267607144
Max Magnitude0
ClinVar
Risk rs267607144(A;A)
Alt rs267607144(A;A)
Reference rs267607144(G;G)
Significance Pathogenic
Disease Distal 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 Charcot-Marie-Tooth disease type 2C Charcot-Marie-Tooth disease Neuromuscular Diseases not provided
Reversed 1
HGVS NC_000012.11:g.110238470C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005292.3, RCV000005293.5, RCV000192243.1, RCV000202467.1, RCV000235740.1,