DisGeNET - a database of gene-disease associations

OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES, C4225227

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:

rs372054380

rs372054380

RTN4IP1

1

1.000

6

106622936

missense variant

C/T

snv

2.4E-05

4.2E-05

0.800

1.000

2015

2015

dbSNP:

rs200457692

rs200457692

RTN4IP1

1

1.000

6

106619221

stop gained

T/A;C

snv

8.0E-06

0.700