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.
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3
CUI: C3809414
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3
4 0.882 0.120 5 62361319 missense variant G/A snv 0.800 1.000 1 2013 2013
Lissencephaly
CUI: C0266463
Disease: Lissencephaly
9 0.882 0.120 5 62361319 missense variant G/A snv 0.010 1.000 1 2017 2017
Microcephaly
CUI: C0025958
Disease: Microcephaly
27 0.882 0.120 5 62361319 missense variant G/A snv 0.010 1.000 1 2017 2017