rs781838938
|
ATP6V1B1;VAX2
|
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.
|
9916796 |
1999 |
rs781838938
|
ATP6V1B1;VAX2
|
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness
|
|
0.800 |
GeneticVariation |
UNIPROT |
Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis.
|
12579397 |
2003 |
rs781838938
|
ATP6V1B1;VAX2
|
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
|
12414817 |
2002 |
rs781838938
|
ATP6V1B1;VAX2
|
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs1161604514
|
ATP6V1B1;VAX2
|
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs121964879
|
ATP6V1B1;VAX2
|
RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121964880
|
ATP6V1B1;VAX2
|
RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121964880
|
ATP6V1B1;VAX2
|
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.
|
9916796 |
1999 |
rs121964880
|
ATP6V1B1;VAX2
|
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness
|
|
0.700 |
GeneticVariation |
UNIPROT |
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
|
12414817 |
2002 |
rs121964880
|
ATP6V1B1;VAX2
|
Nephrocalcinosis
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.
|
28893421 |
2018 |
rs121964880
|
ATP6V1B1;VAX2
|
Nephrolithiasis
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.
|
28893421 |
2018 |
rs121964880
|
ATP6V1B1;VAX2
|
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness
|
|
0.700 |
GeneticVariation |
UNIPROT |
Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis.
|
12579397 |
2003 |
rs121964881
|
ATP6V1B1;VAX2
|
Multiple congenital anomalies
|
A |
0.700 |
CausalMutation |
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 |
rs121964881
|
ATP6V1B1;VAX2
|
Multiple congenital anomalies
|
A |
0.700 |
CausalMutation |
CLINVAR |
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.
|
16769747 |
2006 |
rs121964881
|
ATP6V1B1;VAX2
|
Multiple congenital anomalies
|
A |
0.700 |
CausalMutation |
CLINVAR |
New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies.
|
11045400 |
2000 |
rs121964881
|
ATP6V1B1;VAX2
|
Multiple congenital anomalies
|
A |
0.700 |
CausalMutation |
CLINVAR |
ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families.
|
23923981 |
2013 |
rs121964881
|
ATP6V1B1;VAX2
|
Multiple congenital anomalies
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families.
|
27247958 |
2016 |
rs121964881
|
ATP6V1B1;VAX2
|
Multiple congenital anomalies
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis.
|
23729491 |
2013 |
rs121964881
|
ATP6V1B1;VAX2
|
Multiple congenital anomalies
|
A |
0.700 |
CausalMutation |
CLINVAR |
Hearing impairment in association with distal renal tubular acidosis among Saudi children.
|
7499943 |
1995 |
rs121964881
|
ATP6V1B1;VAX2
|
Multiple congenital anomalies
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical and molecular aspects of distal renal tubular acidosis in children.
|
28188436 |
2017 |
rs121964881
|
ATP6V1B1;VAX2
|
Multiple congenital anomalies
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.
|
9916796 |
1999 |
rs121964881
|
ATP6V1B1;VAX2
|
RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs145536062
|
ATP6V1B1;VAX2
|
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs145536062
|
ATP6V1B1;VAX2
|
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness
|
T |
0.700 |
GeneticVariation |
CLINVAR |
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.
|
28233610 |
2017 |
rs1553419751
|
ATP6V1B1;VAX2
|
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness
|
T |
0.700 |
GeneticVariation |
CLINVAR |
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.
|
28233610 |
2017 |