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rs387906259

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906259(-;-)
Make rs387906259(-;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position57765109
GeneCYP27B1
is asnp
is mentioned by
dbSNPrs387906259
ebirs387906259
HLIrs387906259
Exacrs387906259
Varsomers387906259
Maprs387906259
PheGenIrs387906259
hapmaprs387906259
1000 genomesrs387906259
hgdprs387906259
ensemblrs387906259
gopubmedrs387906259
geneviewrs387906259
scholarrs387906259
googlers387906259
pharmgkbrs387906259
gwascentralrs387906259
openSNPrs387906259
23andMers387906259
23andMe allrs387906259
SNP Nexus

SNPshotrs387906259
SNPdbers387906259
MSV3drs387906259
GWAS Ctlgrs387906259
Max Magnitude0
ClinVar
Risk rs387906259(;)
Alt rs387906259(;)
Reference rs387906259(C;C)
Significance Pathogenic
Disease Vitamin D-dependent rickets
Variation info
Gene CYP27B1
CLNDBN Vitamin D-dependent rickets, type 1
Reversed 1
HGVS NC_000012.11:g.58158892delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000001730.3,