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rs121909791

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909791(A;A)
Make rs121909791(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position47865106
GeneVDR
is asnp
is mentioned by
dbSNPrs121909791
ebirs121909791
HLIrs121909791
Exacrs121909791
Varsomers121909791
Maprs121909791
PheGenIrs121909791
hapmaprs121909791
1000 genomesrs121909791
hgdprs121909791
ensemblrs121909791
gopubmedrs121909791
geneviewrs121909791
scholarrs121909791
googlers121909791
pharmgkbrs121909791
gwascentralrs121909791
openSNPrs121909791
23andMers121909791
23andMe allrs121909791
SNP Nexus

SNPshotrs121909791
SNPdbers121909791
MSV3drs121909791
GWAS Ctlgrs121909791
Max Magnitude0
OMIM601769
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909791(A;A)
Alt rs121909791(A;A)
Reference rs121909791(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.48258889C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008187.3,