DisGeNET - a database of gene-disease associations

Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness, C0403554

Variant: rs145536062 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs145536062

rs145536062

ATP6V1B1 ; VAX2

T

0.700

GeneticVariation

CLINVAR

The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.

2017

dbSNP:

rs145536062

rs145536062

ATP6V1B1 ; VAX2

T

0.700

CausalMutation

CLINVAR