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rs121912636

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912636(A;T)
Make rs121912636(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position109798775
GeneTRPV4
is asnp
is mentioned by
dbSNPrs121912636
ebirs121912636
HLIrs121912636
Exacrs121912636
Varsomers121912636
Maprs121912636
PheGenIrs121912636
hapmaprs121912636
1000 genomesrs121912636
hgdprs121912636
ensemblrs121912636
gopubmedrs121912636
geneviewrs121912636
scholarrs121912636
googlers121912636
pharmgkbrs121912636
gwascentralrs121912636
openSNPrs121912636
23andMers121912636
23andMe allrs121912636
SNP Nexus

SNPshotrs121912636
SNPdbers121912636
MSV3drs121912636
GWAS Ctlgrs121912636
Max Magnitude0
OMIM605427
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121912636(G,T;G,T)
Alt rs121912636(G,T;G,T)
Reference rs121912636(A;A)
Significance Pathogenic
Disease Metatrophic dysplasia Skeletal dysplasia
Variation info
Gene TRPV4
CLNDBN Metatrophic dysplasia Skeletal dysplasia
Reversed 1
HGVS NC_000012.11:g.110236580T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005286.2, RCV000202518.1,