Have questions? Visit https://www.reddit.com/r/SNPedia

rs267607150

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267607150(A;G)
Make rs267607150(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position109792671
GeneTRPV4
is asnp
is mentioned by
dbSNPrs267607150
ebirs267607150
HLIrs267607150
Exacrs267607150
Varsomers267607150
Maprs267607150
PheGenIrs267607150
hapmaprs267607150
1000 genomesrs267607150
hgdprs267607150
ensemblrs267607150
gopubmedrs267607150
geneviewrs267607150
scholarrs267607150
googlers267607150
pharmgkbrs267607150
gwascentralrs267607150
openSNPrs267607150
23andMers267607150
23andMe allrs267607150
SNP Nexus

SNPshotrs267607150
SNPdbers267607150
MSV3drs267607150
GWAS Ctlgrs267607150
Max Magnitude0
ClinVar
Risk rs267607150(G;G)
Alt rs267607150(G;G)
Reference rs267607150(A;A)
Significance Pathogenic
Disease Spondyloepiphyseal dysplasia Maroteaux type Skeletal dysplasia
Variation info
Gene TRPV4
CLNDBN Spondyloepiphyseal dysplasia Maroteaux type Skeletal dysplasia
Reversed 1
HGVS NC_000012.11:g.110230476T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023425.2, RCV000202448.1,