{{Rsnum
|rsid=6544718
|Gene=ABCG8
|Chromosome=2
|position=43877786
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.1065
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=ABCG8
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 63.4 | 29.5 | 7.1
| HCB | 100.0 | 0.0 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 100.0 | 0.0 | 0.0
| ASW | 86.0 | 14.0 | 0.0
| CHB | 100.0 | 0.0 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 83.8 | 16.2 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 65.5 | 31.0 | 3.4
| MKK | 97.4 | 2.6 | 0.0
| TSI | 64.4 | 32.7 | 3.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=6544718
|allele=C
|frequency=0.208
|uid=1103658083737
|type=heterozygous_SNP
|hugo=ABCG8
|ensembl gene=ENSG00000143921
|ensembl transcript=ENST00000272286
|sift=TOLERATED
|disease=Defects in ABCG8 are a cause of sitosterolemia (MIM:210250); also known as phytosterolemia or shellfish sterolemia. It is a rare autosomal recessive disorder characterized by increased intestinal absorption of all sterols including cholesterol, plant and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. Sitosterolemia patients have hypercholesterolemia, very high levels of plant sterols in the plasma, and frequently develop tendon and tuberous xanthomas, accelerated atherosclerosis and premature coronary artery disease.
}}

{{PMID Auto
|PMID=15996216
|Title=Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots.
|OA=1
}}

{{PMID Auto
|PMID=16507104
|Title=A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans.
|OA=1
}}

{{PMID Auto
|PMID=20170916
|Title=Association of selected ABC gene family single nucleotide polymorphisms with postprandial lipoproteins: results from the population-based Hortega study.
}}

{{GET Evidence
|gene=ABCG8
|aa_change=Val632Ala
|aa_change_short=V632A
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs6544718
|overall_frequency_n=9022
|overall_frequency_d=10758
|overall_frequency=0.838632
|n_genomes=56
|n_genomes_annotated=0
|n_haplomes=107
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=2
|autoscore=2
|n_web_uneval=5
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}