DisGeNET - a database of gene-disease associations

rs80338652, LYST

N. diseases: 2

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Chediak-Higashi Syndrome

CUI:	C0007965
Disease:	Chediak-Higashi Syndrome

14

1.000

0.160

1

235805826

stop gained

G/A

snv

1.2E-05

1.4E-05

0.710

1.000

1996

2017

CHEDIAK-HIGASHI SYNDROME, ADULT TYPE

CUI:	C4016993
Disease:	CHEDIAK-HIGASHI SYNDROME, ADULT TYPE

3

1.000

0.160

1

235805826

stop gained

G/A

snv

1.2E-05

1.4E-05

0.700