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.
Abnormally large globe
CUI: C1855852
Disease: Abnormally large globe
1 0.851 0.160 11 1442607 splice donor variant G/A snv 0.700 1.000 1 2019 2019
Apraxia of Phonation
CUI: C0264611
Disease: Apraxia of Phonation
9 0.851 0.160 11 1442607 splice donor variant G/A snv 0.700 1.000 1 2019 2019
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
78 0.851 0.160 11 1442607 splice donor variant G/A snv 0.700 1.000 1 2019 2019
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.851 0.160 11 1442607 splice donor variant G/A snv 0.700 1.000 1 2019 2019
Convex nasal ridge
CUI: C0240538
Disease: Convex nasal ridge
8 0.851 0.160 11 1442607 splice donor variant G/A snv 0.700 1.000 1 2019 2019
Delayed fine motor development
CUI: C4023681
Disease: Delayed fine motor development
13 0.851 0.160 11 1442607 splice donor variant G/A snv 0.700 1.000 1 2019 2019
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.851 0.160 11 1442607 splice donor variant G/A snv 0.700 1.000 1 2019 2019
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.160 11 1442607 splice donor variant G/A snv 0.700 1.000 1 2019 2019
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.851 0.160 11 1442607 splice donor variant G/A snv 0.700 1.000 1 2019 2019
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.851 0.160 11 1442607 splice donor variant G/A snv 0.700 1.000 1 2019 2019
Tall stature
CUI: C0241240
Disease: Tall stature
14 0.851 0.160 11 1442607 splice donor variant G/A snv 0.700 1.000 1 2019 2019