DisGeNET - a database of gene-disease associations

Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss, C1864499

Source: ALL

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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

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs121908369

rs121908369

ATP6V0A4

1

1.000

0.280

7

138739606

stop gained

A/T

snv

0.700

dbSNP:

rs28939081

rs28939081

ATP6V0A4

2

0.925

0.280

7

138709633

missense variant

C/T

snv

4.0E-05

7.0E-06

0.700