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rs121912635

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912635(G;T)
Make rs121912635(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position109788462
GeneTRPV4
is asnp
is mentioned by
dbSNPrs121912635
ebirs121912635
HLIrs121912635
Exacrs121912635
Varsomers121912635
Maprs121912635
PheGenIrs121912635
hapmaprs121912635
1000 genomesrs121912635
hgdprs121912635
ensemblrs121912635
gopubmedrs121912635
geneviewrs121912635
scholarrs121912635
googlers121912635
pharmgkbrs121912635
gwascentralrs121912635
openSNPrs121912635
23andMers121912635
23andMe allrs121912635
SNP Nexus

SNPshotrs121912635
SNPdbers121912635
MSV3drs121912635
GWAS Ctlgrs121912635
Max Magnitude0
OMIM605427
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912635(T;T)
Alt rs121912635(T;T)
Reference rs121912635(G;G)
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.110226267C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005285.2, RCV000202454.1,