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rs137854891

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854891(C;G)
Make rs137854891(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position43846309
GeneABCG8
is asnp
is mentioned by
dbSNPrs137854891
ebirs137854891
HLIrs137854891
Exacrs137854891
Varsomers137854891
Maprs137854891
PheGenIrs137854891
hapmaprs137854891
1000 genomesrs137854891
hgdprs137854891
ensemblrs137854891
gopubmedrs137854891
geneviewrs137854891
scholarrs137854891
googlers137854891
pharmgkbrs137854891
gwascentralrs137854891
openSNPrs137854891
23andMers137854891
23andMe allrs137854891
SNP Nexus

SNPshotrs137854891
SNPdbers137854891
MSV3drs137854891
GWAS Ctlgrs137854891
Max Magnitude0
ClinVar
Risk rs137854891(G;G)
Alt rs137854891(G;G)
Reference rs137854891(C;C)
Significance Pathogenic
Disease Sitosterolemia
Variation info
Gene ABCG8
CLNDBN Sitosterolemia
Reversed 0
HGVS NC_000002.11:g.44073448C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000032718.4,


[PMID 15375183] Phenotypic heterogeneity of sitosterolemia.