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rs267607148

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607148(A;A)
Make rs267607148(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position109800639
GeneTRPV4
is asnp
is mentioned by
dbSNPrs267607148
ebirs267607148
HLIrs267607148
Exacrs267607148
Varsomers267607148
Maprs267607148
PheGenIrs267607148
hapmaprs267607148
1000 genomesrs267607148
hgdprs267607148
ensemblrs267607148
gopubmedrs267607148
geneviewrs267607148
scholarrs267607148
googlers267607148
pharmgkbrs267607148
gwascentralrs267607148
openSNPrs267607148
23andMers267607148
23andMe allrs267607148
SNP Nexus

SNPshotrs267607148
SNPdbers267607148
MSV3drs267607148
GWAS Ctlgrs267607148
Max Magnitude0
ClinVar
Risk rs267607148(A;A)
Alt rs267607148(A;A)
Reference rs267607148(G;G)
Significance Pathogenic
Disease Spondylometaphyseal dysplasia Neuromuscular Diseases Skeletal dysplasia
Variation info
Gene TRPV4
CLNDBN Spondylometaphyseal dysplasia, Kozlowski type Neuromuscular Diseases Skeletal dysplasia
Reversed 1
HGVS NC_000012.11:g.110238444C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005302.2, RCV000202563.1,