Gene: HBB ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281864581
rs281864581
HBB
G 0.700 CausalMutation CLINVAR

dbSNP: rs33924775
rs33924775
HBB
T 0.700 CausalMutation CLINVAR

dbSNP: rs33925391
rs33925391
HBB
C 0.700 CausalMutation CLINVAR

dbSNP: rs33929459
rs33929459
HBB
T 0.700 CausalMutation CLINVAR

dbSNP: rs33966761
rs33966761
HBB
T 0.700 CausalMutation CLINVAR

dbSNP: rs33991472
rs33991472
HBB
C 0.700 CausalMutation CLINVAR

dbSNP: rs34160180
rs34160180
HBB
C 0.700 CausalMutation CLINVAR

dbSNP: rs34165323
rs34165323
HBB
C 0.700 CausalMutation CLINVAR

dbSNP: rs34809925
rs34809925
HBB
C 0.700 CausalMutation CLINVAR

dbSNP: rs35395625
rs35395625
HBB
A 0.700 GeneticVariation CLINVAR

dbSNP: rs35485099
rs35485099
HBB
T 0.700 CausalMutation CLINVAR

dbSNP: rs35693898
rs35693898
HBB
G 0.700 CausalMutation CLINVAR

dbSNP: rs41417446
rs41417446
HBB
C 0.700 CausalMutation CLINVAR

dbSNP: rs33949869
rs33949869
HBB
T 0.700 CausalMutation CLINVAR Polycythemia produced by hemoglobin Osler (beta-145 (HC2) Tyr yields Asp). 1117598

1975
dbSNP: rs33944208
rs33944208
HBB
A 0.700 CausalMutation CLINVAR Black beta-thalassemia homozygotes with specific sequence variations in the 5' hypersensitive site-2 of the locus control region have high levels of fetal hemoglobin. 1384315

1992
dbSNP: rs33941377
rs33941377
HBB
T 0.700 GeneticVariation CLINVAR The -87 (C----A) beta(+)-thalassemia mutation in a black family. 1428943

1992
dbSNP: rs33974936
rs33974936
HBB
T 0.700 CausalMutation CLINVAR High prevalence of the beta-thalassaemia nonsense 37 mutation in Catalonians from the Ebro delta. 1520612

1992
dbSNP: rs34704828
rs34704828
HBB
T 0.700 CausalMutation CLINVAR Two novel beta-thalassemia mutations in the 5' and 3' noncoding regions of the beta-globin gene. 1536956

1992
dbSNP: rs34563000
rs34563000
HBB
C 0.700 CausalMutation CLINVAR A new beta-thalassemia mutation (initiation codon ATG----GTG) found in the Japanese population. 1686262

1991
dbSNP: rs34856846
rs34856846
HBB
T 0.700 CausalMutation CLINVAR Molecular heterogeneity of beta-thalassemia in mestizo Mexicans. 1769663

1991
dbSNP: rs33941377
rs33941377
HBB
T 0.700 GeneticVariation CLINVAR Detection of beta-thalassemia mutations by ASO hybridization of PCR amplified DNA with digoxigenin ddUTP labeled oligonucleotides. 1814858

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
dbSNP: rs33950507
rs33950507
HBB
A 0.700 CausalMutation CLINVAR Molecular basis of HbE-beta-thalassemia and the origin of HbE in northeast Thailand: identification of one novel mutation using amplified DNA from buffy coat specimens. 1974422

1990
dbSNP: rs33944208
rs33944208
HBB
T 0.700 CausalMutation CLINVAR Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan. 1986379

1991
dbSNP: rs33985472
rs33985472
HBB
C 0.700 CausalMutation CLINVAR Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan. 1986379

1991