Gene: GATA1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894816
rs104894816
GATA1
G 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs587776456
rs587776456
GATA1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs104894815
rs104894815
GATA1
0.020 GeneticVariation BEFREE Substitution mutations in GATA1-Nf, such as GATA1(V205M) that diminish the GATA1-FOG1 association, have been identified in human thrombocytopenia and anemia cases. 22279059

2012
dbSNP: rs104894815
rs104894815
GATA1
0.020 GeneticVariation BEFREE Here we describe a family with X-linked dyserythropoietic anaemia and thrombocytopenia due to a substitution of methionine for valine at amino acid 205 of GATA-1. 10700180

2000