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rs118204008

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204008(C;T)
Make rs118204008(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position57763798
GeneCYP27B1
is asnp
is mentioned by
dbSNPrs118204008
ebirs118204008
HLIrs118204008
Exacrs118204008
Varsomers118204008
Maprs118204008
PheGenIrs118204008
hapmaprs118204008
1000 genomesrs118204008
hgdprs118204008
ensemblrs118204008
gopubmedrs118204008
geneviewrs118204008
scholarrs118204008
googlers118204008
pharmgkbrs118204008
gwascentralrs118204008
openSNPrs118204008
23andMers118204008
23andMe allrs118204008
SNP Nexus

SNPshotrs118204008
SNPdbers118204008
MSV3drs118204008
GWAS Ctlgrs118204008
Max Magnitude0
OMIM609506
Desc
Variant0011
Relatedalso
ClinVar
Risk rs118204008(T;T)
Alt rs118204008(T;T)
Reference rs118204008(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.58157581G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001735.2,