rs121912753, SLC4A1

N. diseases: 5
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 0.827 0.200 17 44251583 missense variant A/G snv 0.700 1.000 1 2004 2004
Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology
CUI: C1969039
Disease: Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology
1 0.827 0.200 17 44251583 missense variant A/G snv 0.700 0
Distal Renal Tubular Acidosis
CUI: C1704380
Disease: Distal Renal Tubular Acidosis
18 0.827 0.200 17 44251583 missense variant A/G snv 0.020 1.000 2 2004 2006
Ovalocytosis, Malaysian-Melanesian-Filipino Type
CUI: C1862322
Disease: Ovalocytosis, Malaysian-Melanesian-Filipino Type
5 0.827 0.200 17 44251583 missense variant A/G snv 0.010 1.000 1 2004 2004
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
CUI: C1864498
Disease: RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
13 0.827 0.200 17 44251583 missense variant A/G snv 0.010 1.000 1 2004 2004