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rs267607169

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607169(A;A)
Make rs267607169(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position47844994
GeneVDR
is asnp
is mentioned by
dbSNPrs267607169
ebirs267607169
HLIrs267607169
Exacrs267607169
Varsomers267607169
Maprs267607169
PheGenIrs267607169
hapmaprs267607169
1000 genomesrs267607169
hgdprs267607169
ensemblrs267607169
gopubmedrs267607169
geneviewrs267607169
scholarrs267607169
googlers267607169
pharmgkbrs267607169
gwascentralrs267607169
openSNPrs267607169
23andMers267607169
23andMe allrs267607169
SNP Nexus

SNPshotrs267607169
SNPdbers267607169
MSV3drs267607169
GWAS Ctlgrs267607169
Max Magnitude0
ClinVar
Risk rs267607169(A;A)
Alt rs267607169(A;A)
Reference rs267607169(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.48238777C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008200.4,