rs1064795945, ASPM

N. diseases: 5
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.
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 1.000 0.120 1 197102332 frameshift variant AAGT/- delins 0.700 1.000 2 2002 2009
Microcephaly, Primary Autosomal Recessive, 5
CUI: C1837501
Disease: Microcephaly, Primary Autosomal Recessive, 5
81 1.000 0.120 1 197102332 frameshift variant AAGT/- delins 0.700 1.000 2 2002 2009
Narrow forehead
CUI: C1839758
Disease: Narrow forehead
20 1.000 0.120 1 197102332 frameshift variant AAGT/- delins 0.700 1.000 2 2002 2009
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 1.000 0.120 1 197102332 frameshift variant AAGT/- delins 0.700 1.000 2 2002 2009
Sloping forehead
CUI: C1857679
Disease: Sloping forehead
5 1.000 0.120 1 197102332 frameshift variant AAGT/- delins 0.700 1.000 2 2002 2009