{{Rsnum
|rsid=6756629
|Gene=ABCG5
|Chromosome=2
|position=43837951
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.07392
|Gene_s=ABCG5,ABCG8
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.9 | 14.2 | 85.0
| HCB | 0.0 | 2.9 | 97.1
| JPT | 0.0 | 0.9 | 99.1
| YRI | 0.7 | 12.9 | 86.4
| ASW | 1.8 | 14.0 | 84.2
| CHB | 0.0 | 2.9 | 97.1
| CHD | 0.0 | 4.6 | 95.4
| GIH | 0.0 | 5.0 | 95.0
| LWK | 0.0 | 24.5 | 75.5
| MEX | 0.0 | 27.6 | 72.4
| MKK | 0.6 | 21.8 | 77.6
| TSI | 1.0 | 11.8 | 87.3
| HapMapRevision=28
}}
The [http://blog.23andme.com/2008/12/08/new-papers-from-nature-genetics-yield-a-bounty-of-cholesterol-snps/ 23andMe blog] reports that the minor allele of this SNP (A) is associated with decreased LDL levels, increased HDL [[cholesterol]] levels, and decreased [[triglyceride]] levels. 

DeCode reports that the G allele is associated with a lower risk of [[gallstone disease]] ([[cholelithiasis]]) {{PMID|17632509}}.
 
{| border="1"
|-
!SNP
!Rarer allele
!LDL
!HDL
!TG
|-
| [[rs6544713]] || T || + || ||
|-
| [[rs2650000]] || A || + || ||
|-
| [[rs471364]] || C || || - ||
|-
| [[rs1800961]] || T || || - ||
|-
| [[rs7679]] || C || || - || +
|-
| [[rs2967605]] || T || || - ||
|-
| [[rs2409722]] || T || || || -
|-
| [[rs10903129]] || A || - || - || -
|-
| [[rs6756629]] || A || - || + || -
|-
| [[rs12670798]] || C || + || + || +
|-
| [[rs7395662]] || A || - || + || +
|-
| [[rs174570]] || T || - || - || +
|-
| [[rs2271293]] || A || - || + || -
|-
| [[rs2624265]] || C || || || +
|-
| [[rs2167079]] || T || || + ||
|-
| [[rs9891572]] || T || || + ||
|-
| [[rs4844614]] || T || + || ||
|-
| [[rs5031002]] || G || + || ||
|-
|}

{{PMID Auto GWAS
|PMID=19060911
|Trait=Cholesterol, total
|Title=Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts
|RiskAllele=G
|Pval=2E-11
|OR=0.15
|ORtxt=[NR] SD increase
|OA=1
}}

{{PharmGKB
|RSID=rs6756629
|Name_s=
|Gene_s=ABCG8, ABCG5
|Feature=
|Evidence=PubMed ID:19060911; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. (Initial Sample Size: 17,797 individuals; Replication Sample Size: NR); (Region: 2p21; Reported Gene(s): ABCG5; Risk Allele: rs6756629-G); (p-value= 0.0000000003).This variant is associated with LDL cholesterol.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740219
}}

{{PharmGKB
|RSID=rs6756629
|Name_s=
|Gene_s=ABCG8, ABCG5
|Feature=
|Evidence=PubMed ID:19060911; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. (Initial Sample Size: 22,562 individuals; Replication Sample Size: NR); (Region: 2p21; Reported Gene(s): ABCG5; Risk Allele: rs6756629-G); (p-value= 0.00000000002).This variant is associated with Cholesterol, total.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740202
}}

{{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=19474294
|Title=Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
|OA=1
}}

{{PMID Auto
|PMID=19951432
|Title=Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.
|OA=1
}}

{{PMID Auto
|PMID=20502693
|Title=Genetics and beyond--the transcriptome of human monocytes and disease susceptibility.
|OA=1
}}

{{PMID Auto
|PMID=20832063
|Title=Exploring genetic determinants of plasma total cholesterol levels and their predictive value in a longitudinal study.
}}

{{GET Evidence
|gene=ABCG5
|aa_change=Arg50Cys
|aa_change_short=R50C
|impact=protective
|qualified_impact=Low clinical importance, Likely protective
|inheritance=undefined
|quality_scores=Array
|dbsnp_id=rs6756629
|overall_frequency_n=736
|overall_frequency_d=10758
|overall_frequency=0.0684142
|n_genomes=11
|n_genomes_annotated=0
|n_haplomes=12
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_case_control=4
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=2
|qualitycomment_severity=Y
|qualityscore_treatability=4
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_gwas=Y
|in_pharmgkb=Y
|pph2_score=0.985
|genetests_testable=Y
|nblosum100=8
|autoscore=4
|webscore=N
|n_web_uneval=5
|variant_evidence=0
|clinical_importance=1
|summary_short=This variant has a mild protective effect on blood cholesterol. It is associated with slightly lower total and LDL cholesterol levels.
}}

{{PMID Auto
|PMID=24256507
|Title=Lipid trait-associated genetic variation is associated with gallstone disease in the diverse Third National Health and Nutrition Examination Survey (NHANES III)
|OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}