DisGeNET - a database of gene-disease associations

rs121434219, ATM;C11orf65

N. diseases: 3

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

0.925

0.200

11

108365476

stop gained

C/T

snv

1.6E-05

7.0E-06

0.700

1.000

1996

2016

Neoplastic Syndromes, Hereditary

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

6387

0.925

0.200

11

108365476

stop gained

C/T

snv

1.6E-05

7.0E-06

0.700

1.000

1996

2016

ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY

CUI:	C4017102
Disease:	ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY

2

0.925

0.200

11

108365476

stop gained

C/T

snv

1.6E-05

7.0E-06

0.700