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 22 41177712 missense variant C/G;T snv 4.0E-06 0.700 1.000 1 2018 2018
RUBINSTEIN-TAYBI SYNDROME 2
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
31 0.925 0.120 22 41177712 missense variant C/G;T snv 4.0E-06 0.700 1.000 1 2018 2018