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 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 		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: rs1161604514
rs1161604514
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0403554
Disease:
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		0.700 GeneticVariation UNIPROT
dbSNP: rs121964880
rs121964880
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0403554
Disease:
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		0.700 GeneticVariation UNIPROT Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. 9916796 1999
dbSNP: rs121964880
rs121964880
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0403554
Disease:
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		0.700 GeneticVariation UNIPROT Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. 12414817 2002
dbSNP: rs121964880
rs121964880
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0403554
Disease:
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		0.700 GeneticVariation UNIPROT Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. 12579397 2003
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
dbSNP: rs727505222
rs727505222
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0403554
Disease:
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		0.700 GeneticVariation UNIPROT
dbSNP: rs782500780
rs782500780
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0403554
Disease:
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		0.700 GeneticVariation UNIPROT Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. 12414817 2002
dbSNP: rs782500780
rs782500780
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0403554
Disease:
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		0.700 GeneticVariation UNIPROT Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. 12579397 2003
dbSNP: rs782500780
rs782500780
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0403554
Disease:
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		0.700 GeneticVariation UNIPROT Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. 9916796 1999
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: 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