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rs267607147

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607147(C;T)
Make rs267607147(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position109784379
GeneTRPV4
is asnp
is mentioned by
dbSNPrs267607147
ebirs267607147
HLIrs267607147
Exacrs267607147
Varsomers267607147
Maprs267607147
PheGenIrs267607147
hapmaprs267607147
1000 genomesrs267607147
hgdprs267607147
ensemblrs267607147
gopubmedrs267607147
geneviewrs267607147
scholarrs267607147
googlers267607147
pharmgkbrs267607147
gwascentralrs267607147
openSNPrs267607147
23andMers267607147
23andMe allrs267607147
SNP Nexus

SNPshotrs267607147
SNPdbers267607147
MSV3drs267607147
GWAS Ctlgrs267607147
Max Magnitude0
ClinVar
Risk rs267607147(G,T;G,T)
Alt rs267607147(G,T;G,T)
Reference rs267607147(C;C)
Significance Pathogenic
Disease Metatrophic dysplasia Skeletal dysplasia
Variation info
Gene TRPV4
CLNDBN Metatrophic dysplasia Skeletal dysplasia
Reversed 1
HGVS NC_000012.11:g.110222184G>A; NC_000012.11:g.110222184G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005299.2, RCV000202484.1, RCV000005298.2,