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.
Aganglionosis of the small intestine
CUI: C4023346
Disease: Aganglionosis of the small intestine
2 0.790 0.320 13 77903538 missense variant C/T snv 1.3E-04 2.8E-05 0.700 0
Aganglionosis, Colonic
CUI: C0085758
Disease: Aganglionosis, Colonic
11 0.790 0.320 13 77903538 missense variant C/T snv 1.3E-04 2.8E-05 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.790 0.320 13 77903538 missense variant C/T snv 1.3E-04 2.8E-05 0.700 0
Intestinal hemorrhage NOS
CUI: C0267373
Disease: Intestinal hemorrhage NOS
3 0.790 0.320 13 77903538 missense variant C/T snv 1.3E-04 2.8E-05 0.700 0
Iron deficiency anemia
CUI: C0162316
Disease: Iron deficiency anemia
21 0.790 0.320 13 77903538 missense variant C/T snv 1.3E-04 2.8E-05 0.700 0
Malnutrition
CUI: C0162429
Disease: Malnutrition
29 0.790 0.320 13 77903538 missense variant C/T snv 1.3E-04 2.8E-05 0.700 0
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.790 0.320 13 77903538 missense variant C/T snv 1.3E-04 2.8E-05 0.700 0
Total intestinal aganglionosis
CUI: C0345240
Disease: Total intestinal aganglionosis
2 0.790 0.320 13 77903538 missense variant C/T snv 1.3E-04 2.8E-05 0.700 0
Usher Syndrome, Type II
CUI: C1568249
Disease: Usher Syndrome, Type II
7 0.790 0.320 13 77903538 missense variant C/T snv 1.3E-04 2.8E-05 0.010 1.000 1 2017 2017
WAARDENBURG SYNDROME, TYPE 4A
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
11 0.790 0.320 13 77903538 missense variant C/T snv 1.3E-04 2.8E-05 0.010 1.000 1 2017 2017