Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34474104
rs34474104
HBG2
0.800 GeneticVariation UNIPROT A new (G)γ-globin variant causing low oxygen affinity: Hb F-Brugine/Feldkirch [(G)γ105(G7)Leu→His; HBG2: c.317T>A]. 24502349

2014
dbSNP: rs34878913
rs34878913
HBG2
0.800 GeneticVariation UNIPROT A new (G)γ-globin variant causing low oxygen affinity: Hb F-Brugine/Feldkirch [(G)γ105(G7)Leu→His; HBG2: c.317T>A]. 24502349

2014
dbSNP: rs35103459
rs35103459
HBG2
0.800 GeneticVariation UNIPROT A new (G)γ-globin variant causing low oxygen affinity: Hb F-Brugine/Feldkirch [(G)γ105(G7)Leu→His; HBG2: c.317T>A]. 24502349

2014
dbSNP: rs34474104
rs34474104
HBG2
0.800 GeneticVariation UNIPROT A hemoglobin variant associated with neonatal cyanosis and anemia. 21561349

2011
dbSNP: rs34878913
rs34878913
HBG2
0.800 GeneticVariation UNIPROT A hemoglobin variant associated with neonatal cyanosis and anemia. 21561349

2011
dbSNP: rs35103459
rs35103459
HBG2
0.800 GeneticVariation UNIPROT A hemoglobin variant associated with neonatal cyanosis and anemia. 21561349

2011
dbSNP: rs34474104
rs34474104
HBG2
0.800 GeneticVariation UNIPROT Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [Ggamma63(E7)His-->Leu, CAT>CTT]. 19065339

2008
dbSNP: rs34878913
rs34878913
HBG2
0.800 GeneticVariation UNIPROT Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [Ggamma63(E7)His-->Leu, CAT>CTT]. 19065339

2008
dbSNP: rs35103459
rs35103459
HBG2
0.800 GeneticVariation UNIPROT Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [Ggamma63(E7)His-->Leu, CAT>CTT]. 19065339

2008
dbSNP: rs34474104
rs34474104
HBG2
0.800 GeneticVariation UNIPROT Hemoglobin F-Cincinnati, alpha 2G gamma 2 41(C7) Phe-->Ser in a newborn with cyanosis. 7741137

1995
dbSNP: rs34878913
rs34878913
HBG2
0.800 GeneticVariation UNIPROT Hemoglobin F-Cincinnati, alpha 2G gamma 2 41(C7) Phe-->Ser in a newborn with cyanosis. 7741137

1995
dbSNP: rs35103459
rs35103459
HBG2
0.800 GeneticVariation UNIPROT Hemoglobin F-Cincinnati, alpha 2G gamma 2 41(C7) Phe-->Ser in a newborn with cyanosis. 7741137

1995
dbSNP: rs34474104
rs34474104
HBG2
0.800 GeneticVariation UNIPROT Hb F-M-Osaka or alpha 2G gamma 2(63)(E7)His----Tyr in a Caucasian male infant. 2483933

1989
dbSNP: rs34474104
rs34474104
HBG2
0.800 GeneticVariation UNIPROT Mutant fetal hemoglobin causing cyanosis in a newborn. 2470017

1989
dbSNP: rs34878913
rs34878913
HBG2
0.800 GeneticVariation UNIPROT Mutant fetal hemoglobin causing cyanosis in a newborn. 2470017

1989
dbSNP: rs34878913
rs34878913
HBG2
0.800 GeneticVariation UNIPROT Hb F-M-Osaka or alpha 2G gamma 2(63)(E7)His----Tyr in a Caucasian male infant. 2483933

1989
dbSNP: rs35103459
rs35103459
HBG2
0.800 GeneticVariation UNIPROT Mutant fetal hemoglobin causing cyanosis in a newborn. 2470017

1989
dbSNP: rs35103459
rs35103459
HBG2
0.800 GeneticVariation UNIPROT Hb F-M-Osaka or alpha 2G gamma 2(63)(E7)His----Tyr in a Caucasian male infant. 2483933

1989
dbSNP: rs34474104
rs34474104
HBG2
A 0.800 CausalMutation CLINVAR

dbSNP: rs34878913
rs34878913
HBG2
G 0.800 CausalMutation CLINVAR

dbSNP: rs35103459
rs35103459
HBG2
A 0.800 CausalMutation CLINVAR

dbSNP: rs587776864
rs587776864
HBG2
T 0.800 CausalMutation CLINVAR

dbSNP: rs587776864
rs587776864
HBG2
0.800 GeneticVariation UNIPROT