Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs35532010
rs35532010
HBB
AG 0.700 CausalMutation CLINVAR High resolution melting analysis: a rapid screening and typing tool for common β-thalassemia mutation in Chinese population. 25089872

2014
dbSNP: rs35532010
rs35532010
HBB
AG 0.700 CausalMutation CLINVAR Molecular lesion frequency of hemoglobin gene disorders in Taiwan. 21599435

2011
dbSNP: rs35532010
rs35532010
HBB
AG 0.700 CausalMutation CLINVAR Parallel minisequencing followed by multiplex matrix-assisted laser desorption/ionization mass spectrometry assay for beta-thalassemia mutations. 15761692

2005
dbSNP: rs35532010
rs35532010
HBB
AG 0.700 CausalMutation CLINVAR Rapid detection of beta-globin gene (HBB) mutations coupling heteroduplex and primer-extension analysis by DHPLC. 12955718

2003
dbSNP: rs35532010
rs35532010
HBB
AG 0.700 CausalMutation CLINVAR Molecular basis and haematological characterization of beta-thalassaemia major in Taiwan, with a mutation of IVS-1 3' end TAG-->GAG in a Chinese patient. 8435318

1993
dbSNP: rs35532010
rs35532010
HBB
AG 0.700 CausalMutation CLINVAR The spectrum of beta-thalassemia mutations in Taiwan: identification of a novel frameshift mutation. 2014803

1991
dbSNP: rs35532010
rs35532010
HBB
AG 0.700 CausalMutation CLINVAR A new frameshift beta zero-thalassemia mutation (codons 27-28 +C) found in a Chinese family. 1850955

1991