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rs28934606

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs28934606(C;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position57764510
GeneCYP27B1
is asnp
is mentioned by
dbSNPrs28934606
ebirs28934606
HLIrs28934606
Exacrs28934606
Varsomers28934606
Maprs28934606
PheGenIrs28934606
hapmaprs28934606
1000 genomesrs28934606
hgdprs28934606
ensemblrs28934606
gopubmedrs28934606
geneviewrs28934606
scholarrs28934606
googlers28934606
pharmgkbrs28934606
gwascentralrs28934606
openSNPrs28934606
23andMers28934606
23andMe allrs28934606
SNP Nexus

SNPshotrs28934606
SNPdbers28934606
MSV3drs28934606
GWAS Ctlgrs28934606
Max Magnitude0
OMIM609506
DescVITAMIN D-DEPENDENT RICKETS, TYPE I
Variant0003
Relatedalso
Neighborrs28934607
Distance341


ClinVar
Risk rs28934606(A,C;A,C)
Alt rs28934606(A,C;A,C)
Reference rs28934606(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.58158293C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001727.2,