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.
Cerebrooculofacioskeletal Syndrome 1
58 0.882 0.400 10 49524421 stop gained T/A snv 4.0E-06 0.700 1.000 2 2002 2010
Cockayne Syndrome, Type II
CUI: C0751038
Disease: Cockayne Syndrome, Type II
69 0.882 0.400 10 49524421 stop gained T/A snv 4.0E-06 0.700 1.000 2 2002 2010
De Sanctis-Cacchione syndrome
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
51 0.882 0.400 10 49524421 stop gained T/A snv 4.0E-06 0.700 1.000 2 2002 2010