rs121918647, SPTB

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 3
CUI: C1866810
Disease: ELLIPTOCYTOSIS 3
9 0.925 0.080 14 64767829 missense variant G/C snv 0.800 1.000 4 1990 1995
Hereditary pyropoikilocytosis
CUI: C0520739
Disease: Hereditary pyropoikilocytosis
23 0.925 0.080 14 64767829 missense variant G/C snv 0.700 0