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rs121912634

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912634(A;G)
Make rs121912634(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position109798768
GeneTRPV4
is asnp
is mentioned by
dbSNPrs121912634
ebirs121912634
HLIrs121912634
Exacrs121912634
Varsomers121912634
Maprs121912634
PheGenIrs121912634
hapmaprs121912634
1000 genomesrs121912634
hgdprs121912634
ensemblrs121912634
gopubmedrs121912634
geneviewrs121912634
scholarrs121912634
googlers121912634
pharmgkbrs121912634
gwascentralrs121912634
openSNPrs121912634
23andMers121912634
23andMe allrs121912634
SNP Nexus

SNPshotrs121912634
SNPdbers121912634
MSV3drs121912634
GWAS Ctlgrs121912634
Max Magnitude0
OMIM605427
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912634(G;G)
Alt rs121912634(G;G)
Reference rs121912634(A;A)
Significance Pathogenic
Disease Spondylometaphyseal dysplasia Skeletal dysplasia
Variation info
Gene TRPV4
CLNDBN Spondylometaphyseal dysplasia, Kozlowski type Skeletal dysplasia
Reversed 1
HGVS NC_000012.11:g.110236573T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005284.2, RCV000202481.1,