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: rs114234874
rs114234874
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0022650
Disease:
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
dbSNP: rs114234874
rs114234874
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C1864498
Disease:
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE 		0.010 GeneticVariation BEFREE Overall, 14.6% of wild-type patients and 52.4% of p.E161K carriers were unable to acidify their urine below pH 5.3 and thus, can be considered to have incomplete dRTA. 26453614 2016
dbSNP: rs114234874
rs114234874
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0392525
Disease:
Nephrolithiasis 		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
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: rs121964879
rs121964879
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C4016429
Disease:
RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121964880
rs121964880
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C4016429
Disease:
RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS 		C 0.700 CausalMutation CLINVAR
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 Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene. 16611712 2006
dbSNP: rs121964881
rs121964881
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0000772
Disease:
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
dbSNP: rs121964881
rs121964881
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies. 11045400 2000
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 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 Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis. 23729491 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 Hearing impairment in association with distal renal tubular acidosis among Saudi children. 7499943 1995
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: 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 the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. 9916796 1999
dbSNP: rs121964881
rs121964881
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C4016429
Disease:
RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS 		A 0.700 CausalMutation CLINVAR
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 CausalMutation CLINVAR
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: rs1553420702
rs1553420702
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0403554
Disease:
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		C 0.700 CausalMutation CLINVAR Extensive founder effect for distal renal tubular acidosis (dRTA) with sensorineural deafness in an isolated South American population. 18798332 2008
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 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 Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene. 16611712 2006