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rs28934605

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28934605(A;A)
Make rs28934605(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position57766019
GeneCYP27B1
is asnp
is mentioned by
dbSNPrs28934605
ebirs28934605
HLIrs28934605
Exacrs28934605
Varsomers28934605
Maprs28934605
PheGenIrs28934605
hapmaprs28934605
1000 genomesrs28934605
hgdprs28934605
ensemblrs28934605
gopubmedrs28934605
geneviewrs28934605
scholarrs28934605
googlers28934605
pharmgkbrs28934605
gwascentralrs28934605
openSNPrs28934605
23andMers28934605
23andMe allrs28934605
SNP Nexus

SNPshotrs28934605
SNPdbers28934605
MSV3drs28934605
GWAS Ctlgrs28934605
Max Magnitude0
OMIM609506
DescVITAMIN D-DEPENDENT RICKETS, TYPE I
Variant0002
Relatedalso
Neighborrs28934604
Distance54


ClinVar
Risk rs28934605(A;A)
Alt rs28934605(A;A)
Reference rs28934605(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.58159802C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001726.2,