Gene: ATP6V0A4 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1443883930
rs1443883930
ATP6V0A4
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
ATP6V0A4
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
ATP6V0A4
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
ATP6V0A4
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
ATP6V0A4
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
ATP6V0A4
A 0.700 GeneticVariation CLINVAR Whole-exome sequencing as a diagnostic tool for distal renal tubular acidosis. 26208211

2016
dbSNP: rs754517968
rs754517968
ATP6V0A4
A 0.700 GeneticVariation CLINVAR Importance of early audiologic assessment in distal renal tubular acidosis. 23754897

2011
dbSNP: rs754517968
rs754517968
ATP6V0A4
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
ATP6V0A4
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
ATP6V0A4
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
ATP6V0A4
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
ATP6V0A4
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
ATP6V0A4
A 0.700 CausalMutation CLINVAR

dbSNP: rs267606671
rs267606671
ATP6V0A4
T 0.700 CausalMutation CLINVAR

dbSNP: rs587776615
rs587776615
ATP6V0A4
T 0.700 CausalMutation CLINVAR

dbSNP: rs587776616
rs587776616
ATP6V0A4
G 0.700 CausalMutation CLINVAR

dbSNP: rs587776617
rs587776617
ATP6V0A4
T 0.700 CausalMutation CLINVAR