rs121964881
|
ATP6V1B1;VAX2
|
Multiple congenital anomalies
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical and molecular aspects of distal renal tubular acidosis in children.
|
28188436 |
2017 |
rs782138777
|
ATP6V1B1;VAX2
|
Multiple congenital anomalies
|
T |
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 ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families.
|
27247958 |
2016 |
rs782138777
|
ATP6V1B1;VAX2
|
Multiple congenital anomalies
|
T |
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 |
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 |
Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis.
|
23729491 |
2013 |
rs782138777
|
ATP6V1B1;VAX2
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation |
CLINVAR |
ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families.
|
23923981 |
2013 |
rs782138777
|
ATP6V1B1;VAX2
|
Multiple congenital anomalies
|
T |
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 |
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 |
rs782138777
|
ATP6V1B1;VAX2
|
Multiple congenital anomalies
|
T |
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 |
rs782138777
|
ATP6V1B1;VAX2
|
Multiple congenital anomalies
|
T |
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 |
New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies.
|
11045400 |
2000 |
rs782138777
|
ATP6V1B1;VAX2
|
Multiple congenital anomalies
|
T |
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 |
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.
|
9916796 |
1999 |
rs782138777
|
ATP6V1B1;VAX2
|
Multiple congenital anomalies
|
T |
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
|
Multiple congenital anomalies
|
A |
0.700 |
CausalMutation |
CLINVAR |
Hearing impairment in association with distal renal tubular acidosis among Saudi children.
|
7499943 |
1995 |
rs782138777
|
ATP6V1B1;VAX2
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation |
CLINVAR |
Hearing impairment in association with distal renal tubular acidosis among Saudi children.
|
7499943 |
1995 |