DisGeNET - a database of gene-disease associations

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68, C4748688

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:

rs1559390743

rs1559390743

TRAK1

1

1.000

3

42209780

frameshift variant

-/C

delins

0.700

dbSNP:

rs1559877920

rs1559877920

TRAK1

1

1.000

3

42176812

splice acceptor variant

A/C;G

snv

0.700

dbSNP:

rs770281448

rs770281448

TRAK1

1

1.000

3

42194814

missense variant

T/C

snv

3.2E-05

7.0E-06

0.700