rs121918644, SPTA1

N. diseases: 1
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.
Hereditary pyropoikilocytosis
CUI: C0520739
Disease: Hereditary pyropoikilocytosis
23 1.000 0.080 1 158685229 missense variant T/C snv 3.2E-05 1.0E-04 0.800 1.000 1 1991 1991