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rs118204009

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs118204009(A;A)
Make rs118204009(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position57764147
GeneCYP27B1
is asnp
is mentioned by
dbSNPrs118204009
ebirs118204009
HLIrs118204009
Exacrs118204009
Varsomers118204009
Maprs118204009
PheGenIrs118204009
hapmaprs118204009
1000 genomesrs118204009
hgdprs118204009
ensemblrs118204009
gopubmedrs118204009
geneviewrs118204009
scholarrs118204009
googlers118204009
pharmgkbrs118204009
gwascentralrs118204009
openSNPrs118204009
23andMers118204009
23andMe allrs118204009
SNP Nexus

SNPshotrs118204009
SNPdbers118204009
MSV3drs118204009
GWAS Ctlgrs118204009
Max Magnitude0
OMIM609506
Desc
Variant0012
Relatedalso
ClinVar
Risk rs118204009(A;A)
Alt rs118204009(A;A)
Reference rs118204009(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.58157930C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001736.4,


rs118204009 is a loss-of-function substitution of arg389-to-his in the VDR gene known as CYP27B1 R389H PMID 22190362