rs121912745, 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.
Distal Renal Tubular Acidosis
CUI: C1704380
Disease: Distal Renal Tubular Acidosis
18 0.807 0.200 17 44255708 missense variant G/A;T snv 0.710 1.000 1 2003 2003
BLOOD GROUP--FROESE
CUI: C1832168
Disease: BLOOD GROUP--FROESE
2 0.807 0.200 17 44255708 missense variant G/A;T snv 0.700 0
BLOOD GROUP--WALDNER TYPE
CUI: C1862191
Disease: BLOOD GROUP--WALDNER TYPE
2 0.807 0.200 17 44255708 missense variant G/A;T snv 0.700 0
BLOOD GROUP--WRIGHT ANTIGEN
CUI: C1862190
Disease: BLOOD GROUP--WRIGHT ANTIGEN
2 0.807 0.200 17 44255708 missense variant G/A;T snv 0.700 0
MALARIA, SUSCEPTIBILITY TO (finding)
CUI: C1970028
Disease: MALARIA, SUSCEPTIBILITY TO (finding)
23 0.807 0.200 17 44255708 missense variant G/A;T snv 0.700 0
Ovalocytosis, Malaysian-Melanesian-Filipino Type
CUI: C1862322
Disease: Ovalocytosis, Malaysian-Melanesian-Filipino Type
5 0.807 0.200 17 44255708 missense variant G/A;T snv 0.700 0
Pseudohyperkalemia Cardiff
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
60 0.807 0.200 17 44255708 missense variant G/A;T snv 0.700 0
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
CUI: C1969038
Disease: RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
9 0.807 0.200 17 44255708 missense variant G/A;T snv 0.700 0
Spherocytosis, Type 4
CUI: C2675212
Disease: Spherocytosis, Type 4
23 0.807 0.200 17 44255708 missense variant G/A;T snv 0.700 0