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 g2b2mh.
|(G;G)||0||common in complete genomics|
|Disease Association||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.|
|Disease||Primary autosomal recessive microcephaly 5 not specified|
|CLNDBN||Primary autosomal recessive microcephaly 5 not specified|
|CLNSRC||ClinVar GeneDx GeneReviews University of Chicago|
|qualified_impact||Insufficiently evaluated not reviewed|