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.
Atypical Hemolytic Uremic Syndrome
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
42 0.925 0.120 17 56847995 missense variant G/A;C;T snv 8.0E-06; 4.0E-06 0.700 0
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7
CUI: C3808620
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7
5 0.925 0.120 17 56847995 missense variant G/A;C;T snv 8.0E-06; 4.0E-06 0.700 0
NEPHROTIC SYNDROME, TYPE 7
CUI: C3554330
Disease: NEPHROTIC SYNDROME, TYPE 7
11 0.925 0.120 17 56847995 missense variant G/A;C;T snv 8.0E-06; 4.0E-06 0.700 0