DisGeNET - a database of gene-disease associations

rs397514577, C11orf65;ATM

N. diseases: 4

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

0.882

0.280

11

108317374

missense variant

C/A

snv

4.0E-06

0.800

1.000

1995

2017

Neoplastic Syndromes, Hereditary

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

6387

0.882

0.280

11

108317374

missense variant

C/A

snv

4.0E-06

0.700

1.000

1999

2015

Ataxia-Telangiectasia Variant

CUI:	C1876175
Disease:	Ataxia-Telangiectasia Variant

5

0.882

0.280

11

108317374

missense variant

C/A

snv

4.0E-06

0.700

Malignant neoplasm of breast

CUI:	C0006142
Disease:	Malignant neoplasm of breast

3417

0.882

0.280

11

108317374

missense variant

C/A

snv

4.0E-06

0.700