DisGeNET - a database of gene-disease associations

Juvenile polyposis syndrome, C0345893

Variant: rs1060500740 ×

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:

rs1060500740

rs1060500740

SMAD4

C

0.700

GeneticVariation

CLINVAR

Juvenile polyposis syndrome, SMAD4 mutations, and hereditary hemorrhagic telangiectasia.

2012

dbSNP:

rs1060500740

rs1060500740

SMAD4

C

0.700

GeneticVariation

CLINVAR

Mutation screening in juvenile polyposis syndrome.

2006