DisGeNET - a database of gene-disease associations

RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, C1864498

Variant: rs121908368 ×

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

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:

rs121908368

rs121908368

ATP6V0A4

1

1.000

0.160

7

138739541

missense variant

G/A

snv

2.0E-05

7.0E-06

0.700

1.000

2000

2002