Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894809
rs104894809
GATA1
CUI: C0039730
Disease: Thalassemia
Thalassemia 		0.010 GeneticVariation BEFREE We report here that a syndrome of X-linked thrombocytopenia with thalassemia in humans is caused by a missense mutation (Arg216Gln) in the GATA-1 N finger. 12200364

2002