|
rs1800562
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The aim of this study was to evaluate the prevalence of the H63D, S65C and C282Y mutations in the HFE gene among 102 individuals with alpha-thalassemia and 168 beta-thalassemia heterozygotes and to compare them with 173 control individuals without hemoglobinopathies.
|
17160266 |
2006 |
|
rs1800562
|
|
|
0.020 |
GeneticVariation |
BEFREE |
This excluded C282Y as a factor in the pathogenesis of iron overload in these haemoglobinopathies.
|
11186424 |
2000 |
|
rs1800730
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of this study was to evaluate the prevalence of the H63D, S65C and C282Y mutations in the HFE gene among 102 individuals with alpha-thalassemia and 168 beta-thalassemia heterozygotes and to compare them with 173 control individuals without hemoglobinopathies.
|
17160266 |
2006 |
|
rs281864581
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs281864817
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Haemoglobin Fontainebleau (HBA2: c. 64G>C) in Oman: molecular and haematological characteristics and interaction with various haemoglobinopathies.
|
28784617 |
2018 |
|
rs281864853
|
|
|
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 |
|
rs281865475
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A frameshift at codons 77/78 (-C): a novel beta-thalassemia mutation.
|
15481896 |
2004 |
|
rs3180281
|
|
|
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 |
|
rs33922842
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Simple, efficient, and cost-effective multiplex genotyping with matrix assisted laser desorption/ionization time-of-flight mass spectrometry of hemoglobin beta gene mutations.
|
19460936 |
2009 |
|
rs33922842
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
New amber mutation in a beta-thalassemic gene with nonmeasurable levels of mutant messenger RNA in vivo.
|
3403716 |
1988 |
|
rs33922842
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Hemoglobinopathy: molecular epidemiological characteristics and health effects on Hakka people in the Meizhou region, southern China.
|
23383304 |
2013 |
|
rs33922842
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Characterisation and confirmation of rare beta-thalassaemia mutations in the Malay, Chinese and Indian ethnic groups in Malaysia.
|
17008283 |
2006 |
|
rs33922842
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
High resolution melting analysis: a rapid screening and typing tool for common β-thalassemia mutation in Chinese population.
|
25089872 |
2014 |
|
rs33924775
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs33925391
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs33929459
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs33933298
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Oxygen affinity in hemoglobin Köln disease.
|
5059650 |
1972 |
|
rs33933298
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Report on Ten Years' Experience of Premarital Hemoglobinopathy Screening at a Center in Antalya, Southern Turkey.
|
27207683 |
2016 |
|
rs33933298
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Comprehensive and efficient HBB mutation analysis for detection of beta-hemoglobinopathies in a pan-ethnic population.
|
20395516 |
2010 |
|
rs33933298
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Abnormal hemoglobin phenotypes in carriers of mild anemia in Latin America.
|
20309827 |
2010 |
|
rs33933298
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Molecular characteristics of three hemoglobin variants observed in a Chinese population: Hb Ube-1 [β98 (FG5) Val→Met], Hb Ube‑2 [α68 (E17) Asn→Asp] and Hb Ube‑4 [α116 (GH4) Glu→Ala].
|
21523319 |
2011 |
|
rs33933298
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Two missense mutations in the beta-globin gene can cause severe beta thalassemia. Hemoglobin Medicine Lake (beta 32[B14]leucine-->glutamine; 98 [FG5] valine-->methionine).
|
7860732 |
1995 |
|
rs33933298
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Percentages of abnormal hemoglobins in adults with a heterozygosity for an alpha-chain and/or a beta-chain variant.
|
6859036 |
1983 |
|
rs33941377
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.
|
21423179 |
2011 |
|
rs33941377
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server.
|
11857738 |
2002 |