{{Rsnum
|rsid=4148217
|Gene=ABCG8
|Chromosome=2
|position=43872294
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=A
|GMAF=0.2181
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=ABCG8
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 6.2 | 34.8 | 58.9
| HCB | 0.7 | 16.1 | 83.2
| JPT | 0.0 | 24.8 | 75.2
| YRI | 8.5 | 38.7 | 52.8
| ASW | 20.4 | 40.7 | 38.9
| CHB | 0.7 | 16.1 | 83.2
| CHD | 3.7 | 11.0 | 85.3
| GIH | 3.0 | 26.3 | 70.7
| LWK | 10.5 | 38.1 | 51.4
| MEX | 17.5 | 35.1 | 47.4
| MKK | 7.8 | 39.0 | 53.2
| TSI | 7.9 | 25.7 | 66.3
| HapMapRevision=28
}}

{{Venter SNP
|rsid=4148217
|allele=A
|frequency=0.254
|uid=1103658083729
|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=21062971
|Title=Cholesterol Metabolism Gene Polymorphisms and the Risk of Biliary Tract Cancers and Stones: A Population-Based Case-Control Study in Shanghai, China
}}

{{PMID Auto
|PMID=22548731
|Title=Association of ATP binding cassette transporter G8 rs4148217 SNP and serum lipid levels in Mulao and Han nationalities
|OA=1
}}

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

{{PMID Auto
|PMID=18778477
|Title=Genomic variation in myeloma: design, content, and initial application of the Bank On A Cure SNP Panel to detect associations with progression-free survival.
|OA=1
}}

{{PMID Auto
|PMID=19005228
|Title=The effects of ABCG5/G8 polymorphisms on plasma HDL cholesterol concentrations depend on smoking habit in the Boston Puerto Rican Health Study.
|OA=1
}}

{{GET Evidence
|gene=ABCG8
|aa_change=Thr400Lys
|aa_change_short=T400K
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs4148217
|overall_frequency_n=2363
|overall_frequency_d=10758
|overall_frequency=0.21965
|n_genomes=21
|n_genomes_annotated=0
|n_haplomes=25
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.157
|genetests_testable=Y
|nblosum100=3
|autoscore=2
|n_web_uneval=10
}}

{{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 | Illumina Human 1M}}