DisGeNET - a database of gene-disease associations

Peutz-Jeghers Syndrome, C0031269

Variant: rs121913320 ×

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:

rs121913320

rs121913320

STK11

G

0.700

CausalMutation

CLINVAR

STK11 genotyping and cancer risk in Peutz-Jeghers syndrome.

2005

dbSNP:

rs121913320

rs121913320

STK11

G

0.700

CausalMutation

CLINVAR

STK11 mutations in Peutz-Jeghers syndrome and sporadic colon cancer.

1998