{{Rsnum
|rsid=3762271
|Gene=ASPM
|Chromosome=1
|position=197101312
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=A
|GMAF=0.2461
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=ASPM
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 12.4 | 53.1 | 34.5
| HCB | 5.2 | 30.4 | 64.4
| JPT | 3.5 | 27.4 | 69.0
| YRI | 0.0 | 3.4 | 96.6
| ASW | 0.0 | 14.0 | 86.0
| CHB | 5.2 | 30.4 | 64.4
| CHD | 2.8 | 27.5 | 69.7
| GIH | 13.0 | 37.0 | 50.0
| LWK | 0.0 | 8.3 | 91.7
| MEX | 1.7 | 44.8 | 53.4
| MKK | 1.9 | 24.7 | 73.4
| TSI | 21.8 | 44.6 | 33.7
| HapMapRevision=28
}}
[[rs3762271]] is an A/C [[SNP]] located in the [[ASPM]] gene. The A-allele of this SNP as well as the G-allele of [[rs964201]] another [[SNP]] located in the [[ASPM]] gene and [[rs2442496]] a SNP in the [[MCPH1]] gene arose approximately 50,000 years ago and show strong positive selection in the lineage leading to humans. {{PMID|16151010}} A comment is provided by [http://genes2brains2mentalhealth.wordpress.com/2008/09/20/my-human-brain/ g2b2mh].

{{ClinVar
|rsid=3762271
|Reversed=1
|FwdREF=C
|FwdALT=A
|REF=G
|ALT=T
|RSPOS=197101312
|CHROM=1
|GMAF=0.2454
|dbSNPBuildID=107
|SSR=0
|SAO=0
|VP=0x050160080a0515051f100100
|GENEINFO=ASPM:259266
|GENE_NAME=ASPM
|GENE_ID=259266
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.197101312G>T
|CLNSIG=2
|Tags=RV;PM;SLO;NSM;REF;INT;ASP;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD
|CAF=0.7539; 0.2461
|CLNACC=RCV000020801.1
|CLNDBN=Primary autosomal recessive microcephaly 5
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK9587:C1837501:608716:ORPHA2512
|CLNSRC=ClinVar; GeneReviews
|CLNSRCID=NM_001206846.1:c.4066-5148C>A; NM_018136.4:c.7939C>A; NBK9587
|COMMON=1
|Disease=Primary autosomal recessive microcephaly 5
|CLNORIGIN=0
}}

{{GET Evidence
|gene=ASPM
|aa_change=Leu2647Ile
|aa_change_short=L2647I
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3762271
|overall_frequency_n=3438
|overall_frequency_d=10750
|overall_frequency=0.319814
|n_genomes=17
|n_genomes_annotated=0
|n_haplomes=19
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-2
|autoscore=2
|webscore=N
}}

{{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}}