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rs121909801

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909801(C;T)
Make rs121909801(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position47879026
GeneVDR
is asnp
is mentioned by
dbSNPrs121909801
ebirs121909801
HLIrs121909801
Exacrs121909801
Varsomers121909801
Maprs121909801
PheGenIrs121909801
hapmaprs121909801
1000 genomesrs121909801
hgdprs121909801
ensemblrs121909801
gopubmedrs121909801
geneviewrs121909801
scholarrs121909801
googlers121909801
pharmgkbrs121909801
gwascentralrs121909801
openSNPrs121909801
23andMers121909801
23andMe allrs121909801
SNP Nexus

SNPshotrs121909801
SNPdbers121909801
MSV3drs121909801
GWAS Ctlgrs121909801
Max Magnitude0
OMIM601769
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121909801(G,T;G,T)
Alt rs121909801(G,T;G,T)
Reference rs121909801(C;C)
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.48272809G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008198.3,