rs121918641, SPTA1

N. diseases: 3
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.
ELLIPTOCYTOSIS 2 (disorder)
CUI: C1851741
Disease: ELLIPTOCYTOSIS 2 (disorder)
16 0.882 0.080 1 158685289 missense variant C/A;T snv 4.1E-06; 1.2E-05 0.800 1.000 12 1989 1995
Hereditary pyropoikilocytosis
CUI: C0520739
Disease: Hereditary pyropoikilocytosis
23 0.882 0.080 1 158685289 missense variant C/A;T snv 4.1E-06; 1.2E-05 0.700 0
Anemia, Hemolytic, Congenital
CUI: C0002881
Disease: Anemia, Hemolytic, Congenital
8 0.882 0.080 1 158685289 missense variant C/A;T snv 4.1E-06; 1.2E-05 0.010 1.000 1 2018 2018