Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912741
rs121912741
SLC4A1
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4 		T 0.800 CausalMutation CLINVAR

dbSNP: rs121912748
rs121912748
SLC4A1
CUI: C1969038
Disease: RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder) 		T 0.800 CausalMutation CLINVAR

dbSNP: rs121912749
rs121912749
SLC4A1
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4 		T 0.800 CausalMutation CLINVAR

dbSNP: rs121912750
rs121912750
SLC4A1
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4 		C 0.800 CausalMutation CLINVAR

dbSNP: rs121912754
rs121912754
SLC4A1
CUI: C1969038
Disease: RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder) 		G 0.800 CausalMutation CLINVAR

dbSNP: rs121912755
rs121912755
SLC4A1
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4 		T 0.800 CausalMutation CLINVAR

dbSNP: rs28929480
rs28929480
SLC4A1
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4 		T 0.800 CausalMutation CLINVAR

dbSNP: rs28931583
rs28931583
SLC4A1
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4 		C 0.800 CausalMutation CLINVAR

dbSNP: rs28931584
rs28931584
SLC4A1
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4 		T 0.800 CausalMutation CLINVAR Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis. 9207478

1997
dbSNP: rs28931585
rs28931585
SLC4A1
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4 		A 0.800 CausalMutation CLINVAR

dbSNP: rs863225461
rs863225461
SLC4A1
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff 		G 0.800 CausalMutation CLINVAR

dbSNP: rs863225462
rs863225462
SLC4A1
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff 		C 0.800 CausalMutation CLINVAR

dbSNP: rs863225463
rs863225463
SLC4A1
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff 		G 0.800 CausalMutation CLINVAR

dbSNP: rs866727908
rs866727908
SLC4A1
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4 		T 0.800 GeneticVariation CLINVAR Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population. 10745622

2000
dbSNP: rs121912744
rs121912744
SLC4A1
CUI: C1704380
Disease: Distal Renal Tubular Acidosis
Distal Renal Tubular Acidosis 		T 0.750 CausalMutation CLINVAR

dbSNP: rs121912745
rs121912745
SLC4A1
CUI: C1704380
Disease: Distal Renal Tubular Acidosis
Distal Renal Tubular Acidosis 		A 0.710 CausalMutation CLINVAR

dbSNP: rs121912745
rs121912745
SLC4A1
CUI: C1704380
Disease: Distal Renal Tubular Acidosis
Distal Renal Tubular Acidosis 		T 0.710 CausalMutation CLINVAR

dbSNP: rs121912746
rs121912746
SLC4A1
CUI: C1704380
Disease: Distal Renal Tubular Acidosis
Distal Renal Tubular Acidosis 		A 0.710 CausalMutation CLINVAR

dbSNP: rs121912742
rs121912742
SLC4A1
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912743
rs121912743
SLC4A1
CUI: C1862191
Disease: BLOOD GROUP--WALDNER TYPE
BLOOD GROUP--WALDNER TYPE 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs121912745
rs121912745
SLC4A1
CUI: C1969038
Disease: RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912745
rs121912745
SLC4A1
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912745
rs121912745
SLC4A1
CUI: C1862191
Disease: BLOOD GROUP--WALDNER TYPE
BLOOD GROUP--WALDNER TYPE 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912745
rs121912745
SLC4A1
CUI: C1862190
Disease: BLOOD GROUP--WRIGHT ANTIGEN
BLOOD GROUP--WRIGHT ANTIGEN 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912745
rs121912745
SLC4A1
CUI: C1832168
Disease: BLOOD GROUP--FROESE
BLOOD GROUP--FROESE 		A 0.700 CausalMutation CLINVAR