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rs121909792

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909792(A;A)
Make rs121909792(A;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position47846679
GeneVDR
is asnp
is mentioned by
dbSNPrs121909792
ebirs121909792
HLIrs121909792
Exacrs121909792
Varsomers121909792
Maprs121909792
PheGenIrs121909792
hapmaprs121909792
1000 genomesrs121909792
hgdprs121909792
ensemblrs121909792
gopubmedrs121909792
geneviewrs121909792
scholarrs121909792
googlers121909792
pharmgkbrs121909792
gwascentralrs121909792
openSNPrs121909792
23andMers121909792
23andMe allrs121909792
SNP Nexus

SNPshotrs121909792
SNPdbers121909792
MSV3drs121909792
GWAS Ctlgrs121909792
Max Magnitude0
OMIM601769
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909792(A;A)
Alt rs121909792(A;A)
Reference rs121909792(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.48240462G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008188.3,