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.
Bland White Garland Syndrome
CUI: C1735886
Disease: Bland White Garland Syndrome
1 0.827 0.360 11 61774051 missense variant C/A snv 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.827 0.360 11 61774051 missense variant C/A snv 0.700 0
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
80 0.827 0.360 11 61774051 missense variant C/A snv 0.700 0
Dextrocardia
CUI: C0011813
Disease: Dextrocardia
6 0.827 0.360 11 61774051 missense variant C/A snv 0.700 0
Polycythemia
CUI: C0032461
Disease: Polycythemia
22 0.827 0.360 11 61774051 missense variant C/A snv 0.700 0
Total Anomalous Pulmonary Venous Return 1
CUI: C4551904
Disease: Total Anomalous Pulmonary Venous Return 1
2 0.827 0.360 11 61774051 missense variant C/A snv 0.700 0