Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs781838938
rs781838938
ATP6V1B1 ; VAX2
0.800 GeneticVariation UNIPROT Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. 12579397

2003
dbSNP: rs781838938
rs781838938
ATP6V1B1 ; VAX2
0.800 GeneticVariation UNIPROT Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. 12414817

2002
dbSNP: rs781838938
rs781838938
ATP6V1B1 ; VAX2
0.800 GeneticVariation UNIPROT Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. 9916796

1999
dbSNP: rs781838938
rs781838938
ATP6V1B1 ; VAX2
G 0.800 CausalMutation CLINVAR

dbSNP: rs145536062
rs145536062
ATP6V1B1 ; VAX2
T 0.700 GeneticVariation CLINVAR The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis. 28233610

2017
dbSNP: rs1553419751
rs1553419751
ATP6V1B1 ; VAX2
T 0.700 GeneticVariation CLINVAR The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis. 28233610

2017
dbSNP: rs1553420702
rs1553420702
ATP6V1B1 ; VAX2
C 0.700 CausalMutation CLINVAR Extensive founder effect for distal renal tubular acidosis (dRTA) with sensorineural deafness in an isolated South American population. 18798332

2008
dbSNP: rs121964880
rs121964880
ATP6V1B1 ; VAX2
0.700 GeneticVariation UNIPROT Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. 12579397

2003
dbSNP: rs782500780
rs782500780
ATP6V1B1 ; VAX2
0.700 GeneticVariation UNIPROT Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. 12579397

2003
dbSNP: rs121964880
rs121964880
ATP6V1B1 ; VAX2
0.700 GeneticVariation UNIPROT Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. 12414817

2002
dbSNP: rs782500780
rs782500780
ATP6V1B1 ; VAX2
0.700 GeneticVariation UNIPROT Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. 12414817

2002
dbSNP: rs121964880
rs121964880
ATP6V1B1 ; VAX2
0.700 GeneticVariation UNIPROT Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. 9916796

1999
dbSNP: rs782500780
rs782500780
ATP6V1B1 ; VAX2
0.700 GeneticVariation UNIPROT Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. 9916796

1999
dbSNP: rs1161604514
rs1161604514
ATP6V1B1 ; VAX2
0.700 GeneticVariation UNIPROT

dbSNP: rs145536062
rs145536062
ATP6V1B1 ; VAX2
T 0.700 CausalMutation CLINVAR

dbSNP: rs727505222
rs727505222
ATP6V1B1 ; VAX2
0.700 GeneticVariation UNIPROT

dbSNP: rs782138777
rs782138777
ATP6V1B1 ; VAX2
T 0.700 CausalMutation CLINVAR