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rs121909798

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909798(C;G)
Make rs121909798(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position47846444
GeneVDR
is asnp
is mentioned by
dbSNPrs121909798
dbSNP (classic)rs121909798
ClinGenrs121909798
ebirs121909798
HLIrs121909798
Exacrs121909798
Gnomadrs121909798
Varsomers121909798
LitVarrs121909798
Maprs121909798
PheGenIrs121909798
Biobankrs121909798
1000 genomesrs121909798
hgdprs121909798
ensemblrs121909798
geneviewrs121909798
scholarrs121909798
googlers121909798
pharmgkbrs121909798
gwascentralrs121909798
openSNPrs121909798
23andMers121909798
SNPshotrs121909798
SNPdbers121909798
MSV3drs121909798
GWAS Ctlgrs121909798
Max Magnitude0
OMIM601769
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121909798(G;G)
Alt rs121909798(G;G)
Reference Rs121909798(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.48240227G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008195.3,