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rs387906912

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906912(C;T)
Make rs387906912(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position43838634
GeneABCG5, ABCG8
is asnp
is mentioned by
dbSNPrs387906912
ebirs387906912
HLIrs387906912
Exacrs387906912
Varsomers387906912
Maprs387906912
PheGenIrs387906912
hapmaprs387906912
1000 genomesrs387906912
hgdprs387906912
ensemblrs387906912
gopubmedrs387906912
geneviewrs387906912
scholarrs387906912
googlers387906912
pharmgkbrs387906912
gwascentralrs387906912
openSNPrs387906912
23andMers387906912
23andMe allrs387906912
SNP Nexus

SNPshotrs387906912
SNPdbers387906912
MSV3drs387906912
GWAS Ctlgrs387906912
Max Magnitude0
ClinVar
Risk rs387906912(T;T)
Alt rs387906912(T;T)
Reference rs387906912(C;C)
Significance Pathogenic
Disease Sitosterolemia
Variation info
Gene ABCG5 ABCG8
CLNDBN Sitosterolemia
Reversed 1
HGVS NC_000002.11:g.44065773G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023441.2,