rs765275884, ASPM

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Malformations of Cortical Development, Group II
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
101 0.925 0.120 1 197143279 frameshift variant AT/- delins 0.700 1.000 1 2018 2018
Microcephaly, Primary Autosomal Recessive, 5
CUI: C1837501
Disease: Microcephaly, Primary Autosomal Recessive, 5
81 0.925 0.120 1 197143279 frameshift variant AT/- delins 0.700 1.000 1 2018 2018