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: rs34704828
rs34704828
HBB
T 0.700 CausalMutation CLINVAR A downstream element in the human beta-globin promoter: evidence of extended sequence-specific transcription factor IID contacts. 10840054

2000
dbSNP: rs281865475
rs281865475
HBB
A 0.700 CausalMutation CLINVAR A frameshift at codons 77/78 (-C): a novel beta-thalassemia mutation. 15481896

2004
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: 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: rs35619054
rs35619054
HBB
CAGAT 0.700 CausalMutation CLINVAR A new frameshift mutation, insertion of ATCT, at codon 48 in the beta-globin gene causes beta-thalassemia in an Indian proband. 8081396

1994
dbSNP: rs281864853
rs281864853
HBA2
0.010 GeneticVariation BEFREE A new silent hemoglobin variant, Hb Ozieri (alpha 71(E20)Ala-->Val), was observed in five apparently unrelated newborn babies during a screening for hemoglobinopathies on the island of Sardinia. 8448185

1993
dbSNP: rs3180281
rs3180281
HBA1
0.010 GeneticVariation BEFREE A new silent hemoglobin variant, Hb Ozieri (alpha 71(E20)Ala-->Val), was observed in five apparently unrelated newborn babies during a screening for hemoglobinopathies on the island of Sardinia. 8448185

1993
dbSNP: rs35383398
rs35383398
HBB
AC 0.700 CausalMutation CLINVAR A novel beta-thalassemia frameshift mutation (codon 14/15), detectable by direct visualization of abnormal restriction fragment in amplified genomic DNA. 2901867

1988
dbSNP: rs33974936
rs33974936
HBB
T 0.700 CausalMutation CLINVAR A significant beta-thalassemia heterogeneity in the United Arab Emirates. 9140720

1997
dbSNP: rs33985472
rs33985472
HBB
C 0.700 CausalMutation CLINVAR A significant beta-thalassemia heterogeneity in the United Arab Emirates. 9140720

1997
dbSNP: rs35424040
rs35424040
HBB
A 0.700 CausalMutation CLINVAR A significant beta-thalassemia heterogeneity in the United Arab Emirates. 9140720

1997
dbSNP: rs63750532
rs63750532
HBB
C 0.700 CausalMutation CLINVAR A significant beta-thalassemia heterogeneity in the United Arab Emirates. 9140720

1997