Disease: THROMBOCYTOPENIA 6 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879255268
rs879255268
Entrez Id: 6714
Gene Symbol: SRC
SRC
CUI: C4310789
Disease:
THROMBOCYTOPENIA 6 		0.800 GeneticVariation UNIPROT A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies. 26936507 2016
dbSNP: rs879255268
rs879255268
Entrez Id: 6714
Gene Symbol: SRC
SRC
CUI: C4310789
Disease:
THROMBOCYTOPENIA 6 		A 0.800 CausalMutation CLINVAR