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rs121912637

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912637(C;T)
Make rs121912637(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position109784378
GeneTRPV4
is asnp
is mentioned by
dbSNPrs121912637
ebirs121912637
HLIrs121912637
Exacrs121912637
Varsomers121912637
Maprs121912637
PheGenIrs121912637
hapmaprs121912637
1000 genomesrs121912637
hgdprs121912637
ensemblrs121912637
gopubmedrs121912637
geneviewrs121912637
scholarrs121912637
googlers121912637
pharmgkbrs121912637
gwascentralrs121912637
openSNPrs121912637
23andMers121912637
23andMe allrs121912637
SNP Nexus

SNPshotrs121912637
SNPdbers121912637
MSV3drs121912637
GWAS Ctlgrs121912637
Max Magnitude0
OMIM605427
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121912637(G,T;G,T)
Alt rs121912637(G,T;G,T)
Reference rs121912637(C;C)
Significance Pathogenic
Disease Metatrophic dysplasia Spondyloepiphyseal dysplasia Maroteaux type Skeletal dysplasia Neuromuscular Diseases
Variation info
Gene TRPV4
CLNDBN Metatrophic dysplasia Spondyloepiphyseal dysplasia Maroteaux type Skeletal dysplasia Neuromuscular Diseases
Reversed 1
HGVS NC_000012.11:g.110222183G>A; NC_000012.11:g.110222183G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005287.2, RCV000005288.2, RCV000202554.1, RCV000005300.2, RCV000202509.1,