{{Rsnum
|rsid=2278008
|Gene=AMACR
|Chromosome=5
|position=33989413
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.2332
|Gene_s=AMACR,MIR4324
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 6.2 | 27.7 | 66.1
| HCB | 1.5 | 20.0 | 78.5
| JPT | 3.5 | 23.9 | 72.6
| YRI | 1.4 | 34.9 | 63.7
| ASW | 3.6 | 28.6 | 67.9
| CHB | 1.5 | 20.0 | 78.5
| CHD | 4.6 | 28.7 | 66.7
| GIH | 35.4 | 43.4 | 21.2
| LWK | 11.3 | 46.2 | 42.5
| MEX | 8.8 | 49.1 | 42.1
| MKK | 14.8 | 49.7 | 35.5
| TSI | 6.9 | 46.1 | 47.1
| HapMapRevision=28
}}{{Venter SNP
|rsid=2278008
|allele=T
|frequency=0.767
|uid=1103654071305
|type=homozygous_SNP
|hugo=AMACR
|ensembl gene=ENSG00000082196
|ensembl transcript=ENST00000382085
|sift=TOLERATED
|disease=Defects in AMACR are the cause of AMACR deficiency (MIM:604489). It results in elevated concentrations of pristanic acid. It is associated with a form of adult onset sensory motor neuropathy.
}}

{{PMID Auto
|PMID=20445798
|Title=Chromosome 5p Region SNPs Are Associated with Risk of NSCLC among Women.
|OA=1
}}

{{PMID Auto
|PMID=20875727
|Title=Non-synonymous variants in the AMACR gene are associated with schizophrenia.
|OA=1
}}

{{GET Evidence
|gene=AMACR
|aa_change=Glu277Lys
|aa_change_short=E277K
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2278008
|overall_frequency_n=8129
|overall_frequency_d=10758
|overall_frequency=0.755624
|n_genomes=55
|n_genomes_annotated=0
|n_haplomes=90
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=0
|autoscore=2
|n_web_uneval=2
}}

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