{{Rsnum
|rsid=10941112
|Gene=AMACR
|Chromosome=5
|position=34004602
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.3517
|Gene_s=AMACR,MIR4324
|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 | 29.2 | 53.1 | 17.7
| HCB | 14.1 | 44.4 | 41.5
| JPT | 10.9 | 56.4 | 32.7
| YRI | 0.0 | 1.4 | 98.6
| ASW | 1.8 | 19.3 | 78.9
| CHB | 14.1 | 44.4 | 41.5
| CHD | 7.3 | 47.7 | 45.0
| GIH | 1.0 | 27.7 | 71.3
| LWK | 0.0 | 2.8 | 97.2
| MEX | 17.5 | 54.4 | 28.1
| MKK | 0.6 | 7.1 | 92.3
| TSI | 29.7 | 50.5 | 19.8
| HapMapRevision=28
}}{{Venter SNP
|rsid=10941112
|allele=T
|frequency=0.381
|uid=1103654071329
|type=heterozygous_SNP
|hugo=AMACR
|ensembl gene=ENSG00000082196
|ensembl transcript=ENST00000382085
|sift=AFFECT FUNCTION
|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=19252927
|Title=Bladder cancer SNP panel predicts susceptibility and survival.
|OA=1
}}

{{PMID Auto
|PMID=20011102
|Title=Fine-scale variation and genetic determinants of alternative splicing across individuals.
|OA=1
}}

{{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=Gly175Asp
|aa_change_short=G175D
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs10941112
|overall_frequency_n=4100
|overall_frequency_d=10758
|overall_frequency=0.381112
|n_genomes=28
|n_genomes_annotated=0
|n_haplomes=38
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=5
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=4
|autoscore=2
|n_web_uneval=6
}}

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