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rs121909790

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909790(A;A)
Make rs121909790(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position47879016
GeneVDR
is asnp
is mentioned by
dbSNPrs121909790
ebirs121909790
HLIrs121909790
Exacrs121909790
Varsomers121909790
Maprs121909790
PheGenIrs121909790
hapmaprs121909790
1000 genomesrs121909790
hgdprs121909790
ensemblrs121909790
gopubmedrs121909790
geneviewrs121909790
scholarrs121909790
googlers121909790
pharmgkbrs121909790
gwascentralrs121909790
openSNPrs121909790
23andMers121909790
23andMe allrs121909790
SNP Nexus

SNPshotrs121909790
SNPdbers121909790
MSV3drs121909790
GWAS Ctlgrs121909790
Max Magnitude0
OMIM601769
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909790(A,C;A,C)
Alt rs121909790(A,C;A,C)
Reference rs121909790(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.48272799C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008186.4,