Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894809
rs104894809
CUI: C0272302
Disease: Gray Platelet Syndrome
Gray Platelet Syndrome
0.010 GeneticVariation BEFREE X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation. 17209061

2007