Variant: rs781969081 

    present in Gene: VAX2;ATP6V1B1
    present in Chromosome: 2
    Position on Chromosome: 70964443
    Alleles of this Variant: C/-;CC

rs781969081 in VAX2;ATP6V1B1 gene and Dysmorphic features PMID 27247958 2016 Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families.

PMID 28188436 2017 Clinical and molecular aspects of distal renal tubular acidosis in children.

PMID 7499943 1995 Hearing impairment in association with distal renal tubular acidosis among Saudi children.

PMID 9916796 1999 Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.

PMID 23923981 2013 ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families.

PMID 23729491 2013 Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis.

PMID 16611712 2006 Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.

PMID 16769747 2006 Vacuolar H+ -ATPase B1 subunit mutations that cause inherited distal renal tubular acidosis affect proton pump assembly and trafficking in inner medullary collecting duct cells.

PMID 11045400 2000 New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies.