Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1443883930
rs1443883930
T 0.800 GeneticVariation CLINVAR Molecular mechanisms of cutis laxa- and distal renal tubular acidosis-causing mutations in V-ATPase a subunits, ATP6V0A2 and ATP6V0A4. 29311258

2018

dbSNP: rs1443883930
rs1443883930
T 0.800 GeneticVariation CLINVAR Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. 12414817

2002

dbSNP: rs1443883930
rs1443883930
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: rs1443883930
rs1443883930
0.800 GeneticVariation UNIPROT Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. 10973252

2000

dbSNP: rs763982675
rs763982675
A 0.700 GeneticVariation CLINVAR Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families. 27247958

2016

dbSNP: rs763982675
rs763982675
A 0.700 GeneticVariation CLINVAR Whole-exome sequencing as a diagnostic tool for distal renal tubular acidosis. 26208211

2016

dbSNP: rs754517968
rs754517968
A 0.700 GeneticVariation CLINVAR Importance of early audiologic assessment in distal renal tubular acidosis. 23754897

2011

dbSNP: rs754517968
rs754517968
A 0.700 GeneticVariation CLINVAR Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene. 16611712

2006

dbSNP: rs121908368
rs121908368
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: rs28939081
rs28939081
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: rs121908368
rs121908368
0.700 GeneticVariation UNIPROT Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. 10973252

2000

dbSNP: rs28939081
rs28939081
0.700 GeneticVariation UNIPROT Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. 10973252

2000

dbSNP: rs121908367
rs121908367
A 0.700 CausalMutation CLINVAR

dbSNP: rs267606671
rs267606671
T 0.700 CausalMutation CLINVAR

dbSNP: rs587776615
rs587776615
T 0.700 CausalMutation CLINVAR

dbSNP: rs587776616
rs587776616
G 0.700 CausalMutation CLINVAR

dbSNP: rs587776617
rs587776617
T 0.700 CausalMutation CLINVAR

dbSNP: rs121912748
rs121912748
0.020 GeneticVariation BEFREE Two common mutations of the solute carrier family 4 member 1 (SLC4A1) gene, namely, Southeast Asian ovalocytosis (SAO) and band 3 Bangkok 1 (G701D), cause autosomal recessive distal renal tubular acidosis (AR dRTA) in ethnic Southeast Asian populations. 30124986

2019

dbSNP: rs121912748
rs121912748
0.020 GeneticVariation BEFREE We have previously demonstrated that compound heterozygous (SAO/G701D) and homozygous (G701D/G701D) mutations of the anion exchanger 1 (AE1) gene, encoding erythroid and kidney AE1 proteins, cause autosomal recessive distal renal tubular acidosis (AR dRTA) in Thai patients. 12938018

2003

dbSNP: rs114234874
rs114234874
0.010 GeneticVariation BEFREE Overall, 14.6% of wild-type patients and 52.4% of p.E161K carriers were unable to acidify their urine below pH 5.3 and thus, can be considered to have incomplete dRTA. 26453614

2016

dbSNP: rs121912753
rs121912753
0.010 GeneticVariation BEFREE Trafficking defects of a novel autosomal recessive distal renal tubular acidosis mutant (S773P) of the human kidney anion exchanger (kAE1). 15252044

2004