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rs118204010

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204010(C;G)
Make rs118204010(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position57764148
GeneCYP27B1
is asnp
is mentioned by
dbSNPrs118204010
ebirs118204010
HLIrs118204010
Exacrs118204010
Varsomers118204010
Maprs118204010
PheGenIrs118204010
hapmaprs118204010
1000 genomesrs118204010
hgdprs118204010
ensemblrs118204010
gopubmedrs118204010
geneviewrs118204010
scholarrs118204010
googlers118204010
pharmgkbrs118204010
gwascentralrs118204010
openSNPrs118204010
23andMers118204010
23andMe allrs118204010
SNP Nexus

SNPshotrs118204010
SNPdbers118204010
MSV3drs118204010
GWAS Ctlgrs118204010
Max Magnitude0
OMIM609506
Desc
Variant0015
Relatedalso
ClinVar
Risk rs118204010(G,T;G,T)
Alt rs118204010(G,T;G,T)
Reference rs118204010(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.58157931G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001739.2,