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.
Abnormality of salivation
CUI: C4021978
Disease: Abnormality of salivation
1 0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06 0.700 0
Cerebellar Hypoplasia
CUI: C0266470
Disease: Cerebellar Hypoplasia
26 0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06 0.700 0
Dry skin
CUI: C0151908
Disease: Dry skin
12 0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06 0.700 0
Dystonia, Paroxysmal
CUI: C0393588
Disease: Dystonia, Paroxysmal
4 0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06 0.700 0
Ichthyoses
CUI: C0020757
Disease: Ichthyoses
18 0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06 0.700 0
Skin Abnormalities
CUI: C0037268
Disease: Skin Abnormalities
16 0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06 0.700 0