rs121912755, SLC4A1

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.
Spherocytosis, Type 4
CUI: C2675212
Disease: Spherocytosis, Type 4
23 0.925 0.080 17 44253150 missense variant C/T snv 0.800 1.000 15 1992 2005
Hereditary spherocytosis
CUI: C0037889
Disease: Hereditary spherocytosis
13 0.925 0.080 17 44253150 missense variant C/T snv 0.010 1.000 1 2009 2009