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rs121909797

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909797(A;A)
Make rs121909797(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position47878977
GeneVDR
is asnp
is mentioned by
dbSNPrs121909797
ebirs121909797
HLIrs121909797
Exacrs121909797
Varsomers121909797
Maprs121909797
PheGenIrs121909797
hapmaprs121909797
1000 genomesrs121909797
hgdprs121909797
ensemblrs121909797
gopubmedrs121909797
geneviewrs121909797
scholarrs121909797
googlers121909797
pharmgkbrs121909797
gwascentralrs121909797
openSNPrs121909797
23andMers121909797
23andMe allrs121909797
SNP Nexus

SNPshotrs121909797
SNPdbers121909797
MSV3drs121909797
GWAS Ctlgrs121909797
Max Magnitude0
OMIM601769
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121909797(A,C,T;A,C,T)
Alt rs121909797(A,C,T;A,C,T)
Reference rs121909797(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.48272760C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008194.3,