{{Rsnum
|rsid=2281135
|Gene=PNPLA3
|Chromosome=22
|position=43936690
|Orientation=minus
|GMAF=0.2723
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=PNPLA3
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 66.4 | 29.2 | 4.4
| HCB | 38.0 | 46.7 | 15.3
| JPT | 33.6 | 43.4 | 23.0
| YRI | 66.7 | 31.3 | 2.0
| ASW | 75.4 | 21.1 | 3.5
| CHB | 38.0 | 46.7 | 15.3
| CHD | 35.8 | 48.6 | 15.6
| GIH | 46.5 | 45.5 | 7.9
| LWK | 81.8 | 16.4 | 1.8
| MEX | 29.3 | 41.4 | 29.3
| MKK | 67.9 | 29.5 | 2.6
| TSI | 67.6 | 29.4 | 2.9
| HapMapRevision=28
}}
{{PMID Auto GWAS
|PMID=18940312
|Trait=Plasma levels of liver enzymes
|Title=Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes
|RiskAllele=T
|Pval=8E-16
|OR=0.06
|ORtxt=[0.046-0.074] U/L increase
|OA=1
}}

{{omim
|desc=ALANINE AMINOTRANSFERASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS
|id=612364
|rsnum=2281135
}}

{{PharmGKB
|RSID=rs2281135
|Name_s=
|Gene_s=PNPLA3
|Feature=
|Evidence=PubMed ID:18940312; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. (Initial Sample Size: 7,751 European white individuals; Replication Sample Size: 4,704 European white and Indian Asian individua); (Region: 22q13.31; Reported Gene(s): PNPLA3, SAMM50; Risk Allele: rs2281135-T); (p-value= 0.0000000000000008).This variant is associated with Plasma levels of liver enzymes.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740812
}}

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

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2281135
|overall_frequency_n=28
|overall_frequency_d=128
|overall_frequency=0.21875
|n_genomes=21
|n_genomes_annotated=0
|n_haplomes=25
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=22863562
|Title=PNPLA3 polymorphisms and liver aminotransferase levels in a Mexican American population.
|OA=1
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}