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
|
|
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
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs759219
|
ATP6V1B1;VAX2
|
Uric acid measurement (procedure)
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.
|
31578528 |
2019 |
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 |
rs121964881
|
ATP6V1B1;VAX2
|
Multiple congenital anomalies
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical and molecular aspects of distal renal tubular acidosis in children.
|
28188436 |
2017 |
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 |
rs781969081
|
ATP6V1B1;VAX2
|
Dysmorphic features
|
AC |
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 |
rs781969081
|
ATP6V1B1;VAX2
|
Dysmorphic features
|
AC |
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 |
rs3771395
|
Entrez Id: |
25806 |
Gene Symbol: |
VAX2 |
VAX2
|
Astigmatism
|
G |
0.700 |
GeneticVariation |
GWASCAT |
Identification of a candidate gene for astigmatism.
|
23322567 |
2013 |
rs3771395
|
Entrez Id: |
25806 |
Gene Symbol: |
VAX2 |
VAX2
|
Regular astigmatism - corneal
|
G |
0.700 |
GeneticVariation |
GWASDB |
Identification of a candidate gene for astigmatism.
|
23322567 |
2013 |
rs781969081
|
ATP6V1B1;VAX2
|
Dysmorphic features
|
AC |
0.700 |
CausalMutation |
CLINVAR |
ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families.
|
23923981 |
2013 |
rs781969081
|
ATP6V1B1;VAX2
|
Dysmorphic features
|
AC |
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 |
rs17006555
|
ATP6V1B1;VAX2;ATP6V1B1-AS1
|
High density lipoprotein measurement
|
|
0.700 |
GeneticVariation |
GWASDB |
Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
|
23063622 |
2012 |
rs17006555
|
ATP6V1B1;VAX2;ATP6V1B1-AS1
|
Serum HDL cholesterol measurement
|
|
0.700 |
GeneticVariation |
GWASDB |
Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
|
23063622 |
2012 |