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.
Arthralgia
CUI: C0003862
Disease: Arthralgia
27 0.882 0.160 20 45420215 frameshift variant AAAG/- delins 1.2E-05 7.0E-06 0.700 0
Dermatographic urticaria
CUI: C0343065
Disease: Dermatographic urticaria
1 0.882 0.160 20 45420215 frameshift variant AAAG/- delins 1.2E-05 7.0E-06 0.700 0
Episodic hemolytic anemia
CUI: C1859495
Disease: Episodic hemolytic anemia
2 0.882 0.160 20 45420215 frameshift variant AAAG/- delins 1.2E-05 7.0E-06 0.700 0
Myalgia
CUI: C0231528
Disease: Myalgia
22 0.882 0.160 20 45420215 frameshift variant AAAG/- delins 1.2E-05 7.0E-06 0.700 0
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2
3 0.882 0.160 20 45420215 frameshift variant AAAG/- delins 1.2E-05 7.0E-06 0.700 0
Recurrent meningitis
CUI: C0746495
Disease: Recurrent meningitis
2 0.882 0.160 20 45420215 frameshift variant AAAG/- delins 1.2E-05 7.0E-06 0.700 0