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rs121909795

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909795(C;T)
Make rs121909795(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position47857512
GeneVDR
is asnp
is mentioned by
dbSNPrs121909795
ebirs121909795
HLIrs121909795
Exacrs121909795
Varsomers121909795
Maprs121909795
PheGenIrs121909795
hapmaprs121909795
1000 genomesrs121909795
hgdprs121909795
ensemblrs121909795
gopubmedrs121909795
geneviewrs121909795
scholarrs121909795
googlers121909795
pharmgkbrs121909795
gwascentralrs121909795
openSNPrs121909795
23andMers121909795
23andMe allrs121909795
SNP Nexus

SNPshotrs121909795
SNPdbers121909795
MSV3drs121909795
GWAS Ctlgrs121909795
Max Magnitude0
OMIM601769
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121909795(T;T)
Alt rs121909795(T;T)
Reference rs121909795(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.48251295G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008192.3,