rs121912748, SLC4A1

N. diseases: 9
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 0.790 0.200 17 44253327 missense variant C/T snv 4.0E-05 2.1E-05 0.800 1.000 3 1998 2004
Distal Renal Tubular Acidosis
CUI: C1704380
Disease: Distal Renal Tubular Acidosis
18 0.790 0.200 17 44253327 missense variant C/T snv 4.0E-05 2.1E-05 0.100 1.000 10 1999 2010
Ovalocytosis, Malaysian-Melanesian-Filipino Type
CUI: C1862322
Disease: Ovalocytosis, Malaysian-Melanesian-Filipino Type
5 0.790 0.200 17 44253327 missense variant C/T snv 4.0E-05 2.1E-05 0.080 1.000 8 1999 2019
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
CUI: C1864498
Disease: RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
13 0.790 0.200 17 44253327 missense variant C/T snv 4.0E-05 2.1E-05 0.020 1.000 2 2003 2019
Thalassemia
CUI: C0039730
Disease: Thalassemia
18 0.790 0.200 17 44253327 missense variant C/T snv 4.0E-05 2.1E-05 0.020 1.000 2 2007 2008
Anemia, Hemolytic
CUI: C0002878
Disease: Anemia, Hemolytic
31 0.790 0.200 17 44253327 missense variant C/T snv 4.0E-05 2.1E-05 0.010 1.000 1 2008 2008
Hb H disease
CUI: C3841459
Disease: Hb H disease
2 0.790 0.200 17 44253327 missense variant C/T snv 4.0E-05 2.1E-05 0.010 1.000 1 2008 2008
Hepatosplenomegaly
CUI: C0019214
Disease: Hepatosplenomegaly
21 0.790 0.200 17 44253327 missense variant C/T snv 4.0E-05 2.1E-05 0.010 1.000 1 2008 2008
Hereditary spherocytosis
CUI: C0037889
Disease: Hereditary spherocytosis
13 0.790 0.200 17 44253327 missense variant C/T snv 4.0E-05 2.1E-05 0.010 1.000 1 2009 2009