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rs121909794

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909794(A;A)
Make rs121909794(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position47865175
GeneVDR
is asnp
is mentioned by
dbSNPrs121909794
ebirs121909794
HLIrs121909794
Exacrs121909794
Varsomers121909794
Maprs121909794
PheGenIrs121909794
hapmaprs121909794
1000 genomesrs121909794
hgdprs121909794
ensemblrs121909794
gopubmedrs121909794
geneviewrs121909794
scholarrs121909794
googlers121909794
pharmgkbrs121909794
gwascentralrs121909794
openSNPrs121909794
23andMers121909794
23andMe allrs121909794
SNP Nexus

SNPshotrs121909794
SNPdbers121909794
MSV3drs121909794
GWAS Ctlgrs121909794
Max Magnitude0
OMIM601769
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121909794(A;A)
Alt rs121909794(A;A)
Reference rs121909794(G;G)
Significance Pathogenic
Disease Vitamin D-dependent rickets
Variation info
Gene VDR
CLNDBN Vitamin D-dependent rickets, type 2
Reversed 1
HGVS NC_000012.11:g.48258958C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008191.3,