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rs121909802

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909802(A;A)
Make rs121909802(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position47846374
GeneVDR
is asnp
is mentioned by
dbSNPrs121909802
dbSNP (classic)rs121909802
ClinGenrs121909802
ebirs121909802
HLIrs121909802
Exacrs121909802
Gnomadrs121909802
Varsomers121909802
LitVarrs121909802
Maprs121909802
PheGenIrs121909802
Biobankrs121909802
1000 genomesrs121909802
hgdprs121909802
ensemblrs121909802
geneviewrs121909802
scholarrs121909802
googlers121909802
pharmgkbrs121909802
gwascentralrs121909802
openSNPrs121909802
23andMers121909802
SNPshotrs121909802
SNPdbers121909802
MSV3drs121909802
GWAS Ctlgrs121909802
Max Magnitude0
OMIM601769
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121909802(A;A)
Alt rs121909802(A;A)
Reference Rs121909802(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.48240157C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008189.4,