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rs118204012

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs118204012(A;G)
Make rs118204012(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position57765320
GeneCYP27B1
is asnp
is mentioned by
dbSNPrs118204012
ebirs118204012
HLIrs118204012
Exacrs118204012
Varsomers118204012
Maprs118204012
PheGenIrs118204012
hapmaprs118204012
1000 genomesrs118204012
hgdprs118204012
ensemblrs118204012
gopubmedrs118204012
geneviewrs118204012
scholarrs118204012
googlers118204012
pharmgkbrs118204012
gwascentralrs118204012
openSNPrs118204012
23andMers118204012
23andMe allrs118204012
SNP Nexus

SNPshotrs118204012
SNPdbers118204012
MSV3drs118204012
GWAS Ctlgrs118204012
Max Magnitude0
OMIM609506
Desc
Variant0017
Relatedalso
ClinVar
Risk rs118204012(G;G)
Alt rs118204012(G;G)
Reference rs118204012(A;A)
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.58159103T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001741.3,