Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912748
rs121912748
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C1969038
Disease:
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
0.800 GeneticVariation UNIPROT Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis. 15211439 2004
dbSNP: rs121912748
rs121912748
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C1969038
Disease:
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
0.800 GeneticVariation UNIPROT Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells. 10926824 2000
dbSNP: rs121912748
rs121912748
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C1969038
Disease:
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
0.800 GeneticVariation UNIPROT Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A. 9854053 1998
dbSNP: rs121912748
rs121912748
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C1969038
Disease:
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
T 0.800 CausalMutation CLINVAR