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rs387906323

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906323(-;-)
Make rs387906323(-;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position43851808
GeneABCG8
is asnp
is mentioned by
dbSNPrs387906323
ebirs387906323
HLIrs387906323
Exacrs387906323
Varsomers387906323
Maprs387906323
PheGenIrs387906323
hapmaprs387906323
1000 genomesrs387906323
hgdprs387906323
ensemblrs387906323
gopubmedrs387906323
geneviewrs387906323
scholarrs387906323
googlers387906323
pharmgkbrs387906323
gwascentralrs387906323
openSNPrs387906323
23andMers387906323
23andMe allrs387906323
SNP Nexus

SNPshotrs387906323
SNPdbers387906323
MSV3drs387906323
GWAS Ctlgrs387906323
Max Magnitude0
ClinVar
Risk rs387906323(;)
Alt rs387906323(;)
Reference rs387906323(C;C)
Significance Pathogenic
Disease Sitosterolemia
Variation info
Gene ABCG8
CLNDBN Sitosterolemia
Reversed 0
HGVS NC_000002.11:g.44078947delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000005259.3,