rs3771395
×
Entrez Id:
25806
Gene Symbol:
VAX2
VAX2
Astigmatism
G
0.700
GeneticVariation
GWASCAT
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
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
Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.
16611712
2006
rs781969081
ATP6V1B1;VAX2
Dysmorphic features
AC
0.700
CausalMutation
CLINVAR
Clinical and molecular aspects of distal renal tubular acidosis in children.
28188436
2017
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
rs781969081
ATP6V1B1;VAX2
Dysmorphic features
AC
0.700
CausalMutation
CLINVAR
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.
9916796
1999
rs781969081
ATP6V1B1;VAX2
Dysmorphic features
AC
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
rs781969081
ATP6V1B1;VAX2
Dysmorphic features
AC
0.700
CausalMutation
CLINVAR
New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies.
11045400
2000
rs781969081
ATP6V1B1;VAX2
Dysmorphic features
AC
0.700
CausalMutation
CLINVAR
Hearing impairment in association with distal renal tubular acidosis among Saudi children.
7499943
1995
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
rs114234874
ATP6V1B1;VAX2
Kidney Calculi
0.010
GeneticVariation
BEFREE
In summary, our data indicate that recurrent stone formers with the vacuolar H(+)-ATPase B1 subunit p.E161K SNP exhibit a urinary acidification deficit with an increased prevalence of calcium phosphate-containing kidney stones .
26453614
2016
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
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
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
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
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