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rs118204007

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204007(C;G)
Make rs118204007(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position57764755
GeneCYP27B1
is asnp
is mentioned by
dbSNPrs118204007
ebirs118204007
HLIrs118204007
Exacrs118204007
Varsomers118204007
Maprs118204007
PheGenIrs118204007
hapmaprs118204007
1000 genomesrs118204007
hgdprs118204007
ensemblrs118204007
gopubmedrs118204007
geneviewrs118204007
scholarrs118204007
googlers118204007
pharmgkbrs118204007
gwascentralrs118204007
openSNPrs118204007
23andMers118204007
23andMe allrs118204007
SNP Nexus

SNPshotrs118204007
SNPdbers118204007
MSV3drs118204007
GWAS Ctlgrs118204007
Max Magnitude0
OMIM609506
Desc
Variant0009
Relatedalso
ClinVar
Risk rs118204007(G;G)
Alt rs118204007(G;G)
Reference rs118204007(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.58158538G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001733.2,