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rs28934607

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28934607(C;T)
Make rs28934607(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position57764169
GeneCYP27B1
is asnp
is mentioned by
dbSNPrs28934607
ebirs28934607
HLIrs28934607
Exacrs28934607
Varsomers28934607
Maprs28934607
PheGenIrs28934607
hapmaprs28934607
1000 genomesrs28934607
hgdprs28934607
ensemblrs28934607
gopubmedrs28934607
geneviewrs28934607
scholarrs28934607
googlers28934607
pharmgkbrs28934607
gwascentralrs28934607
openSNPrs28934607
23andMers28934607
23andMe allrs28934607
SNP Nexus

SNPshotrs28934607
SNPdbers28934607
MSV3drs28934607
GWAS Ctlgrs28934607
Max Magnitude0
OMIM609506
DescVITAMIN D-DEPENDENT RICKETS, TYPE I
Variant0004
Relatedalso
Neighborrs28934606
Distance341


ClinVar
Risk rs28934607(T;T)
Alt rs28934607(T;T)
Reference rs28934607(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.58157952G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001728.2,