DisGeNET - a database of gene-disease associations

Seizures, C0036572

Variant: rs387906309 ×

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:

rs387906309

rs387906309

HEXA

10

0.925

0.160

15

72346579

frameshift variant

-/GATA

delins

4.0E-06; 8.0E-04

4.5E-04

0.700

1.000

2012

2014