DisGeNET - a database of gene-disease associations

Juvenile Myelomonocytic Leukemia, C0349639

Variant: rs112445441 ×

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:

rs112445441

rs112445441

KRAS

0.810

GeneticVariation

BEFREE

Here, we present a case of JMML with a KRAS G13D mutation.

2015

dbSNP:

rs112445441

rs112445441

KRAS

T

0.810

CausalMutation

CLINVAR

dbSNP:

rs112445441

rs112445441

KRAS

0.810

GeneticVariation

UNIPROT