Variant: rs121964880 

    present in Gene: VAX2;ATP6V1B1
    present in Chromosome: 2
    Position on Chromosome: 70958113
    Alleles of this Variant: T/C

rs121964880 in VAX2;ATP6V1B1 gene and Nephrocalcinosis PMID 28893421 2018 Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.

rs121964880 in VAX2;ATP6V1B1 gene and Nephrolithiasis PMID 28893421 2018 Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.

rs121964880 in VAX2;ATP6V1B1 gene and Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness PMID 12414817 2002 Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.

PMID 12579397 2003 Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis.

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