DisGeNET - a database of gene-disease associations

Thrombocytopenia, C0040034

Variant: rs786205155 ×

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:

rs786205155

rs786205155

ETV6

0.710

GeneticVariation

BEFREE

Here we identify a novel germline ETV6 p. L349P mutation in a kindred affected by thrombocytopenia and ALL.

2015

dbSNP:

rs786205155

rs786205155

ETV6

C

0.710

CausalMutation

CLINVAR