Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906631
rs387906631
GATA2
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		A 0.820 SusceptibilityMutation CLINVAR

dbSNP: rs387906633
rs387906633
GATA2
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		G 0.800 CausalMutation CLINVAR

dbSNP: rs387906630
rs387906630
GATA2
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		A 0.800 CausalMutation CLINVAR

dbSNP: rs387906629
rs387906629
GATA2
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		A 0.800 CausalMutation CLINVAR

dbSNP: rs869320770
rs869320770
GATA2
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		GCGGC 0.700 GeneticVariation CLINVAR

dbSNP: rs869320770
rs869320770
GATA2
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		GCGGC 0.700 CausalMutation CLINVAR

dbSNP: rs869320770
rs869320770
GATA2
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		GCGGC 0.700 GeneticVariation CLINVAR

dbSNP: rs869320735
rs869320735
GATA2
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		GC 0.700 CausalMutation CLINVAR

dbSNP: rs869320734
rs869320734
GATA2
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		C 0.700 CausalMutation CLINVAR

dbSNP: rs869320668
rs869320668
GATA2
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		A 0.700 CausalMutation CLINVAR

dbSNP: rs863224874
rs863224874
GATA2
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		AGAGG 0.700 CausalMutation CLINVAR

dbSNP: rs797045592
rs797045592
GATA2
CUI: C3275959
Disease: LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs797045591
rs797045591
GATA2
CUI: C3275959
Disease: LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs768767517
rs768767517
GATA2
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		AC 0.700 CausalMutation CLINVAR

dbSNP: rs387906634
rs387906634
GATA2
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs387906631
rs387906631
GATA2
CUI: C3275959
Disease: LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO 		A 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs387906629
rs387906629
GATA2
CUI: C3275959
Disease: LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO 		A 0.700 CausalMutation CLINVAR

dbSNP: rs376003468
rs376003468
GATA2
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs376003468
rs376003468
GATA2
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1559986946
rs1559986946
GATA2
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		TC 0.700 CausalMutation CLINVAR

dbSNP: rs1559986946
rs1559986946
GATA2
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		TC 0.700 CausalMutation CLINVAR

dbSNP: rs1559986109
rs1559986109
GATA2
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		CTGTGGCCCCACAGT 0.700 CausalMutation CLINVAR

dbSNP: rs1559986109
rs1559986109
GATA2
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		CTGTGGCCCCACAGT 0.700 CausalMutation CLINVAR

dbSNP: rs1553770949
rs1553770949
GATA2
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		CGTCAG 0.700 CausalMutation CLINVAR

dbSNP: rs1553770949
rs1553770949
GATA2
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		CGTCAG 0.700 CausalMutation CLINVAR