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rs267607149

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607149(A;A)
Make rs267607149(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position109784385
GeneTRPV4
is asnp
is mentioned by
dbSNPrs267607149
ebirs267607149
HLIrs267607149
Exacrs267607149
Varsomers267607149
Maprs267607149
PheGenIrs267607149
hapmaprs267607149
1000 genomesrs267607149
hgdprs267607149
ensemblrs267607149
gopubmedrs267607149
geneviewrs267607149
scholarrs267607149
googlers267607149
pharmgkbrs267607149
gwascentralrs267607149
openSNPrs267607149
23andMers267607149
23andMe allrs267607149
SNP Nexus

SNPshotrs267607149
SNPdbers267607149
MSV3drs267607149
GWAS Ctlgrs267607149
Max Magnitude0
ClinVar
Risk rs267607149(A;A)
Alt rs267607149(A;A)
Reference rs267607149(G;G)
Significance Pathogenic
Disease Spondylometaphyseal dysplasia Spondyloepiphyseal dysplasia Maroteaux type Metatrophic dysplasia Neuromuscular Diseases Skeletal dysplasia
Variation info
Gene TRPV4
CLNDBN Spondylometaphyseal dysplasia, Kozlowski type Spondyloepiphyseal dysplasia Maroteaux type Metatrophic dysplasia Neuromuscular Diseases Skeletal dysplasia
Reversed 1
HGVS NC_000012.11:g.110222190C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005303.2, RCV000005304.2, RCV000023424.2, RCV000202566.1,