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.
Branchial Clefts-Congenital disorder
CUI: C0079037
Disease: Branchial Clefts-Congenital disorder
1 0.807 0.280 14 60648629 splice donor variant C/G snv 0.700 0
BRANCHIOOTIC SYNDROME 3 (disorder)
CUI: C1842124
Disease: BRANCHIOOTIC SYNDROME 3 (disorder)
9 0.807 0.280 14 60648629 splice donor variant C/G snv 0.700 0
Congenital small ears
CUI: C0152423
Disease: Congenital small ears
13 0.807 0.280 14 60648629 splice donor variant C/G snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.280 14 60648629 splice donor variant C/G snv 0.700 0
Growth delay
CUI: C0456070
Disease: Growth delay
40 0.807 0.280 14 60648629 splice donor variant C/G snv 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.807 0.280 14 60648629 splice donor variant C/G snv 0.700 0
Preauricular dimple
CUI: C0266610
Disease: Preauricular dimple
5 0.807 0.280 14 60648629 splice donor variant C/G snv 0.700 0
Vesico-Ureteral Reflux
CUI: C0042580
Disease: Vesico-Ureteral Reflux
23 0.807 0.280 14 60648629 splice donor variant C/G snv 0.700 0