DisGeNET - a database of gene-disease associations

TUMOR PREDISPOSITION SYNDROME, C3280492

Variant: rs1060503735 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1060503735

rs1060503735

BAP1 ; PHF7

G

0.700

CausalMutation

CLINVAR

Germline BAP1 mutations predispose to renal cell carcinomas.

2013

dbSNP:

rs1060503735

rs1060503735

BAP1 ; PHF7

G

0.700

CausalMutation

CLINVAR

Germline BAP1 mutations predispose to malignant mesothelioma.

2011