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rs28934604

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs28934604(A;A)
Make rs28934604(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position57766073
GeneCYP27B1
is asnp
is mentioned by
dbSNPrs28934604
ebirs28934604
HLIrs28934604
Exacrs28934604
Varsomers28934604
Maprs28934604
PheGenIrs28934604
hapmaprs28934604
1000 genomesrs28934604
hgdprs28934604
ensemblrs28934604
gopubmedrs28934604
geneviewrs28934604
scholarrs28934604
googlers28934604
pharmgkbrs28934604
gwascentralrs28934604
openSNPrs28934604
23andMers28934604
23andMe allrs28934604
SNP Nexus

SNPshotrs28934604
SNPdbers28934604
MSV3drs28934604
GWAS Ctlgrs28934604
Max Magnitude0
OMIM609506
DescVITAMIN D-DEPENDENT RICKETS, TYPE I
Variant0001
Relatedalso
Neighborrs28934605
Distance54


ClinVar
Risk rs28934604(A;A)
Alt rs28934604(A;A)
Reference rs28934604(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.58159856C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001725.2,