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rs121909796

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909796(G;T)
Make rs121909796(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position47846743
GeneVDR
is asnp
is mentioned by
dbSNPrs121909796
ebirs121909796
HLIrs121909796
Exacrs121909796
Varsomers121909796
Maprs121909796
PheGenIrs121909796
hapmaprs121909796
1000 genomesrs121909796
hgdprs121909796
ensemblrs121909796
gopubmedrs121909796
geneviewrs121909796
scholarrs121909796
googlers121909796
pharmgkbrs121909796
gwascentralrs121909796
openSNPrs121909796
23andMers121909796
23andMe allrs121909796
SNP Nexus

SNPshotrs121909796
SNPdbers121909796
MSV3drs121909796
GWAS Ctlgrs121909796
Max Magnitude0
OMIM601769
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121909796(T;T)
Alt rs121909796(T;T)
Reference rs121909796(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.48240526C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008193.3,