Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912753
rs121912753
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C1969038
Disease:
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
0.700 GeneticVariation UNIPROT Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis. 15211439 2004