VAX2, ventral anterior homeobox 2, 25806

N. diseases: 15; N. variants: 16
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs781838938
rs781838938
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0403554
Disease:
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
dbSNP: rs781838938
rs781838938
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0403554
Disease:
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
dbSNP: rs781838938
rs781838938
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0403554
Disease:
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
dbSNP: rs781838938
rs781838938
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0403554
Disease:
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness
G 0.800 CausalMutation CLINVAR
dbSNP: rs759219
rs759219
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0202239
Disease:
Uric acid measurement (procedure)
T 0.700 GeneticVariation GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
dbSNP: rs121964880
rs121964880
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0027709
Disease:
Nephrocalcinosis
C 0.700 GeneticVariation CLINVAR Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. 28893421 2018
dbSNP: rs121964880
rs121964880
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0392525
Disease:
Nephrolithiasis
C 0.700 GeneticVariation CLINVAR Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. 28893421 2018
dbSNP: rs121964881
rs121964881
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0000772
Disease:
Multiple congenital anomalies
A 0.700 CausalMutation CLINVAR Clinical and molecular aspects of distal renal tubular acidosis in children. 28188436 2017
dbSNP: rs145536062
rs145536062
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0403554
Disease:
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
dbSNP: rs1553419751
rs1553419751
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0403554
Disease:
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
dbSNP: rs781969081
rs781969081
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0432072
Disease:
Dysmorphic features
AC 0.700 CausalMutation CLINVAR Clinical and molecular aspects of distal renal tubular acidosis in children. 28188436 2017
dbSNP: rs782138777
rs782138777
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0000772
Disease:
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR Clinical and molecular aspects of distal renal tubular acidosis in children. 28188436 2017
dbSNP: rs121964881
rs121964881
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0000772
Disease:
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
dbSNP: rs781969081
rs781969081
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0432072
Disease:
Dysmorphic features
AC 0.700 CausalMutation CLINVAR Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families. 27247958 2016
dbSNP: rs782138777
rs782138777
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0000772
Disease:
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
dbSNP: rs121964881
rs121964881
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0000772
Disease:
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
dbSNP: rs121964881
rs121964881
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0000772
Disease:
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
dbSNP: rs3771395
rs3771395
Entrez Id: 25806
Gene Symbol: VAX2
VAX2
CUI: C0004106
Disease:
Astigmatism
G 0.700 GeneticVariation GWASCAT Identification of a candidate gene for astigmatism. 23322567 2013
dbSNP: rs3771395
rs3771395
Entrez Id: 25806
Gene Symbol: VAX2
VAX2
CUI: C0339682
Disease:
Regular astigmatism - corneal
G 0.700 GeneticVariation GWASDB Identification of a candidate gene for astigmatism. 23322567 2013
dbSNP: rs781969081
rs781969081
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0432072
Disease:
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
dbSNP: rs781969081
rs781969081
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0432072
Disease:
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
dbSNP: rs782138777
rs782138777
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0000772
Disease:
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
dbSNP: rs782138777
rs782138777
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0000772
Disease:
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
dbSNP: rs17006555
rs17006555
Entrez Id: 525;25806;101927750
Gene Symbol: ATP6V1B1;VAX2;ATP6V1B1-AS1
ATP6V1B1;VAX2;ATP6V1B1-AS1
CUI: C0392885
Disease:
High density lipoprotein measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs17006555
rs17006555
Entrez Id: 525;25806;101927750
Gene Symbol: ATP6V1B1;VAX2;ATP6V1B1-AS1
ATP6V1B1;VAX2;ATP6V1B1-AS1
CUI: C0428472
Disease:
Serum HDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012