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rs121909793

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909793(A;A)
Make rs121909793(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position47865085
GeneVDR
is asnp
is mentioned by
dbSNPrs121909793
ebirs121909793
HLIrs121909793
Exacrs121909793
Varsomers121909793
Maprs121909793
PheGenIrs121909793
hapmaprs121909793
1000 genomesrs121909793
hgdprs121909793
ensemblrs121909793
gopubmedrs121909793
geneviewrs121909793
scholarrs121909793
googlers121909793
pharmgkbrs121909793
gwascentralrs121909793
openSNPrs121909793
23andMers121909793
23andMe allrs121909793
SNP Nexus

SNPshotrs121909793
SNPdbers121909793
MSV3drs121909793
GWAS Ctlgrs121909793
Max Magnitude0
OMIM601769
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121909793(A;A)
Alt rs121909793(A;A)
Reference rs121909793(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.48258868C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008190.3,