rs35004220, HBB

N. diseases: 11
Disease: beta Thalassemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 CausalMutation CLINVAR IVS-I-1 (G-->C) in combination with -42 (C-->G) in the promoter region of the beta-globin gene in patients from Tajikistan. 8330981 1993
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 CausalMutation CLINVAR The beta-thalassaemia mutations in the population of Cyprus. 1390250 1992
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 CausalMutation CLINVAR Beta-thalassemia genes in French-Canadians: haplotype and mutation analysis of Portneuf chromosomes. 1967205 1990
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 CausalMutation CLINVAR Beta-thalassemia in Turkey. 2200760 1990
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 CausalMutation CLINVAR Base substitution in an intervening sequence of a beta+-thalassemic human globin gene. 6264477 1981
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 CausalMutation CLINVAR An intron nucleotide sequence variant in a cloned beta +-thalassaemia globin gene. 6264391 1981