DisGeNET - a database of gene-disease associations

Thrombocytopenia, C0040034

Variant: rs879255268 ×

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:

rs879255268

rs879255268

SRC

0.710

GeneticVariation

BEFREE

We now report a 5-year-old girl with syndromic thrombocytopenia due to the same SRC-E527K variant that occurs <i>de novo</i>.

2019

dbSNP:

rs879255268

rs879255268

SRC

A

0.710

GeneticVariation

CLINVAR