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.
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.320 11 76659963 stop gained G/A;T snv 4.0E-06 0.710 1.000 1 2019 2019
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
75 0.851 0.320 11 76659963 stop gained G/A;T snv 4.0E-06 0.700 0
Vitreoretinal degeneration
CUI: C0344290
Disease: Vitreoretinal degeneration
6 0.851 0.320 11 76659963 stop gained G/A;T snv 4.0E-06 0.700 0
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.851 0.320 11 76659963 stop gained G/A;T snv 4.0E-06 0.010 1.000 1 2019 2019
Proliferative retinopathy
CUI: C0339467
Disease: Proliferative retinopathy
7 0.851 0.320 11 76659963 stop gained G/A;T snv 4.0E-06 0.010 1.000 1 2019 2019