DisGeNET - a database of gene-disease associations

rs1057516238, ATM

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.

Ataxia Telangiectasia

CUI:	C0004135
Disease:	Ataxia Telangiectasia

698

1.000

0.200

11

108287599

splice acceptor variant

G/T

snv

0.700

1.000

2013

2014

Neoplastic Syndromes, Hereditary

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

6387

1.000

0.200

11

108287599

splice acceptor variant

G/T

snv

0.700