{{Rsnum
|rsid=964201
|Gene=ASPM
|Chromosome=1
|position=197101771
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.002755
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=ASPM
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 1.8 | 98.2
| HCB | 0.0 | 1.5 | 98.5
| JPT | 0.0 | 0.9 | 99.1
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 1.5 | 98.5
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 4.0 | 96.0
| LWK | 0.0 | 0.9 | 99.1
| MEX | 0.0 | 1.8 | 98.2
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 1.0 | 99.0
| HapMapRevision=28
}}[[rs964201]] is an A/G [[SNP]] located in the [[ASPM]] gene. The G-allele of this SNP as well as the A-allele of [[rs3762271]] 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 found at [http://genes2brains2mentalhealth.wordpress.com/2008/09/20/my-human-brain/ g2b2mh]. 

{{Venter SNP
|rsid=964201
|allele=G
|frequency=0
|uid=1103675303806
|type=heterozygous_SNP
|hugo=ASPM
|ensembl gene=ENSG00000066279
|ensembl transcript=ENST00000367409
|sift=TOLERATED
|disease=Defects in ASPM are the cause of primary microcephaly 5 (MCPH5) (MIM:608716, 251200). Microcephaly is defined as a head circumference more than 3 standard deviations below the age- related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits. This entity is inherited as autosomal recessive trait and is also known as true microcephaly or microcephaly vera.
}}

{{ClinVar
|rsid=964201
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=197101771
|CHROM=1
|GMAF=0.0027
|dbSNPBuildID=86
|SSR=0
|SAO=0
|VP=0x050360080a0504051f100101
|GENEINFO=ASPM:259266
|GENE_NAME=ASPM
|GENE_ID=259266
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.197101771A>G
|CLNSIG=2
|Tags=PM;S3D;SLO;NSM;REF;INT;ASP;VLD;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD
|CAF=0.002755; 0.9972
|CLNACC=RCV000020789.1; RCV000123700.1
|CLNDBN=Primary autosomal recessive microcephaly 5; not provided
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK9587:C1837501:608716:ORPHA2512
|CLNSRC=ClinVar; GeneDx; GeneReviews
|CLNSRCID=NM_018136.4:c.7480T>C; 62465; NBK9587
|COMMON=1
|Disease=Primary autosomal recessive microcephaly 5; not provided
|CLNORIGIN=1
}}

{{GET Evidence
|gene=ASPM
|aa_change=Tyr2494His
|aa_change_short=Y2494H
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs964201
|overall_frequency_n=10716
|overall_frequency_d=10754
|overall_frequency=0.996466
|n_genomes=56
|n_genomes_annotated=0
|n_haplomes=112
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-1
|autoscore=3
|n_web_uneval=1
}}

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