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rs387906258

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906258(-;-)
Make rs387906258(-;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position57765171
GeneCYP27B1
is asnp
is mentioned by
dbSNPrs387906258
ebirs387906258
HLIrs387906258
Exacrs387906258
Varsomers387906258
Maprs387906258
PheGenIrs387906258
hapmaprs387906258
1000 genomesrs387906258
hgdprs387906258
ensemblrs387906258
gopubmedrs387906258
geneviewrs387906258
scholarrs387906258
googlers387906258
pharmgkbrs387906258
gwascentralrs387906258
openSNPrs387906258
23andMers387906258
23andMe allrs387906258
SNP Nexus

SNPshotrs387906258
SNPdbers387906258
MSV3drs387906258
GWAS Ctlgrs387906258
Max Magnitude0
ClinVar
Risk rs387906258(;)
Alt rs387906258(;)
Reference rs387906258(G;G)
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.58158954delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000001729.3,