rs121912754, SLC4A1

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.
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
CUI: C1969038
Disease: RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
9 0.882 0.200 17 44255292 missense variant C/G;T snv 0.800 1.000 3 1998 2004
Distal Renal Tubular Acidosis
CUI: C1704380
Disease: Distal Renal Tubular Acidosis
18 0.882 0.200 17 44255292 missense variant C/G;T snv 0.010 1.000 1 2004 2004
Ovalocytosis, Malaysian-Melanesian-Filipino Type
CUI: C1862322
Disease: Ovalocytosis, Malaysian-Melanesian-Filipino Type
5 0.882 0.200 17 44255292 missense variant C/G;T snv 0.010 1.000 1 2004 2004