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rs121909799

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909799(G;G)
Make rs121909799(G;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position47846418
GeneVDR
is asnp
is mentioned by
dbSNPrs121909799
ebirs121909799
HLIrs121909799
Exacrs121909799
Varsomers121909799
Maprs121909799
PheGenIrs121909799
hapmaprs121909799
1000 genomesrs121909799
hgdprs121909799
ensemblrs121909799
gopubmedrs121909799
geneviewrs121909799
scholarrs121909799
googlers121909799
pharmgkbrs121909799
gwascentralrs121909799
openSNPrs121909799
23andMers121909799
23andMe allrs121909799
SNP Nexus

SNPshotrs121909799
SNPdbers121909799
MSV3drs121909799
GWAS Ctlgrs121909799
Max Magnitude0
OMIM601769
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121909799(G;G)
Alt rs121909799(G;G)
Reference rs121909799(T;T)
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.48240201A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008196.4,