Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs334
rs334
HBB
0.030 GeneticVariation BEFREE The single point mutation (Glu6Val) promotes polymerization of hemoglobin S (HbS) and causes sickling of erythrocytes. 27636225

2016

dbSNP: rs334
rs334
HBB
0.030 GeneticVariation BEFREE Meanwhile, individuals with the hHbS rs334 TT, IL10 rs3024500 AA, and IL17RD rs6780995 GA genotypes were more susceptible to severe malarial anaemia, cerebral malaria, and hyperpyrexia respectively. 24312262

2013

dbSNP: rs334
rs334
HBB
0.030 GeneticVariation BEFREE The objective was to investigate whether haptoglobin (Hp) haplotypes constructed from the functional polymorphism (Hp1/Hp2) plus the functional promoter SNPs -61A-C (rs5471) and -101C-G (rs5470), or sickle cell trait (HbAS, rs334) were associated with risk of active trachoma when stratified by age and sex, in rural Gambian children. 20552021

2010

dbSNP: rs1206396500
rs1206396500
0.010 GeneticVariation BEFREE The single point mutation (Glu6Val) promotes polymerization of hemoglobin S (HbS) and causes sickling of erythrocytes. 27636225

2016

dbSNP: rs763767332
rs763767332
0.010 GeneticVariation BEFREE The single point mutation (Glu6Val) promotes polymerization of hemoglobin S (HbS) and causes sickling of erythrocytes. 27636225

2016

dbSNP: rs1427407
rs1427407
0.010 GeneticVariation BEFREE The current study was conducted on 240 patients with SCD and 60 with sickle cell trait, to determine the association of genetic variants at the BCL11A (rs1427407) and HBS1-MYB (rs6934903) loci with fetal hemoglobin levels (HbF). 25457385

2015

dbSNP: rs321198
rs321198
PTN
0.010 GeneticVariation BEFREE Individuals with sickle cell trait had significantly lower antibody levels to all blood-stage antigens, and recessive homozygotes for CD36 (rs321198) had significantly lower anti-malarial antibody levels to MSP2. 26314886

2015

dbSNP: rs6934903
rs6934903
0.010 GeneticVariation BEFREE The current study was conducted on 240 patients with SCD and 60 with sickle cell trait, to determine the association of genetic variants at the BCL11A (rs1427407) and HBS1-MYB (rs6934903) loci with fetal hemoglobin levels (HbF). 25457385

2015

dbSNP: rs1217691063
rs1217691063
0.010 GeneticVariation BEFREE Recurrent cerebral venous thrombosis associated with heterozygote methylenetetrahydrofolate reductase C677T mutation and sickle cell trait without homocysteinemia: an autopsy case report and review of literature. 25074331

2014

dbSNP: rs6780995
rs6780995
0.010 GeneticVariation BEFREE Meanwhile, individuals with the hHbS rs334 TT, IL10 rs3024500 AA, and IL17RD rs6780995 GA genotypes were more susceptible to severe malarial anaemia, cerebral malaria, and hyperpyrexia respectively. 24312262

2013

dbSNP: rs708567
rs708567
0.010 GeneticVariation BEFREE Furthermore, IL17RE rs708567 GA and hHbS rs334 AT individuals were associated with protection from uncomplicated malaria and anaemia respectively in this study. 24312262

2013

dbSNP: rs5470
rs5470
0.010 GeneticVariation BEFREE The objective was to investigate whether haptoglobin (Hp) haplotypes constructed from the functional polymorphism (Hp1/Hp2) plus the functional promoter SNPs -61A-C (rs5471) and -101C-G (rs5470), or sickle cell trait (HbAS, rs334) were associated with risk of active trachoma when stratified by age and sex, in rural Gambian children. 20552021

2010

dbSNP: rs5471
rs5471
0.010 GeneticVariation BEFREE The objective was to investigate whether haptoglobin (Hp) haplotypes constructed from the functional polymorphism (Hp1/Hp2) plus the functional promoter SNPs -61A-C (rs5471) and -101C-G (rs5470), or sickle cell trait (HbAS, rs334) were associated with risk of active trachoma when stratified by age and sex, in rural Gambian children. 20552021

2010

dbSNP: rs5030868
rs5030868
0.010 GeneticVariation BEFREE Screening the full G6PD gene revealed the presence of the Mediterranean G6PD mutation (S188F) in our HBS patients (47.9%) and in controls (16.7%), and this difference was statistically significant (p = 0.0017). 19594365

2009

dbSNP: rs1335354324
rs1335354324
F2
0.010 GeneticVariation BEFREE In addition, clinical protocols for factor V (Leiden) 1691G>A, prothrombin 20210G>A, methylenetetrahydrofolate reductase (MTHFR) 1298A>C, hemochromatosis (HFE) 187C>G, and beta-globin (hemoglobin S) 17A>T were developed. 15229148

2004

dbSNP: rs397507444
rs397507444
0.010 GeneticVariation BEFREE In addition, clinical protocols for factor V (Leiden) 1691G>A, prothrombin 20210G>A, methylenetetrahydrofolate reductase (MTHFR) 1298A>C, hemochromatosis (HFE) 187C>G, and beta-globin (hemoglobin S) 17A>T were developed. 15229148

2004

dbSNP: rs751377893
rs751377893
F5
0.010 GeneticVariation BEFREE In addition, clinical protocols for factor V (Leiden) 1691G>A, prothrombin 20210G>A, methylenetetrahydrofolate reductase (MTHFR) 1298A>C, hemochromatosis (HFE) 187C>G, and beta-globin (hemoglobin S) 17A>T were developed. 15229148

2004

dbSNP: rs899127658
rs899127658
F2
0.010 GeneticVariation BEFREE In addition, clinical protocols for factor V (Leiden) 1691G>A, prothrombin 20210G>A, methylenetetrahydrofolate reductase (MTHFR) 1298A>C, hemochromatosis (HFE) 187C>G, and beta-globin (hemoglobin S) 17A>T were developed. 15229148

2004