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rs121909800

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909800(C;T)
Make rs121909800(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position47844859
GeneVDR
is asnp
is mentioned by
dbSNPrs121909800
ebirs121909800
HLIrs121909800
Exacrs121909800
Varsomers121909800
Maprs121909800
PheGenIrs121909800
hapmaprs121909800
1000 genomesrs121909800
hgdprs121909800
ensemblrs121909800
gopubmedrs121909800
geneviewrs121909800
scholarrs121909800
googlers121909800
pharmgkbrs121909800
gwascentralrs121909800
openSNPrs121909800
23andMers121909800
23andMe allrs121909800
SNP Nexus

SNPshotrs121909800
SNPdbers121909800
MSV3drs121909800
GWAS Ctlgrs121909800
Max Magnitude0
OMIM601769
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121909800(T;T)
Alt rs121909800(T;T)
Reference rs121909800(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.48238642G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008197.3,