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.
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA
CUI: C4310761
Disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA
2 0.882 0.280 3 45496316 missense variant C/A snv 3.0E-04 2.5E-04 0.800 1.000 1 2016 2016
PERRAULT SYNDROME 4
CUI: C3809105
Disease: PERRAULT SYNDROME 4
8 0.882 0.280 3 45496316 missense variant C/A snv 3.0E-04 2.5E-04 0.800 1.000 1 2013 2013
Gonadal dysgenesis XX type deafness
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
11 0.882 0.280 3 45496316 missense variant C/A snv 3.0E-04 2.5E-04 0.710 1.000 1 2017 2017