rs121918643, SPTA1

N. diseases: 2
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 0.925 0.080 1 158680641 missense variant A/G snv 6.4E-05 1.8E-04 0.800 1.000 12 1989 1995
Hereditary pyropoikilocytosis
CUI: C0520739
Disease: Hereditary pyropoikilocytosis
23 0.925 0.080 1 158680641 missense variant A/G snv 6.4E-05 1.8E-04 0.800 1.000 1 1991 1991