Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs334
rs334
HBB
0.850 GeneticVariation BEFREE We also show that HiFi Cas9 mediates high-level correction of the sickle cell disease (SCD)-causing p.E6V mutation in HSPCs derived from patients with SCD. 30082871

2018
dbSNP: rs334
rs334
HBB
A 0.850 CausalMutation CLINVAR The Prevalence of Sickle Cell Disease and Its Implication for Newborn Screening in Germany (Hamburg Metropolitan Area). 26275168

2016
dbSNP: rs334
rs334
HBB
0.850 GeneticVariation BEFREE We also show efficient correction of the Glu6Val mutation responsible for sickle cell disease by using patient-derived stem and progenitor cells that, after differentiation into erythrocytes, express adult β-globin (HbA) messenger RNA, which confirms intact transcriptional regulation of edited HBB alleles. 27820943

2016
dbSNP: rs334
rs334
HBB
0.850 GeneticVariation BEFREE Sickle cell anemia (SCA) is an autosomal recessive disease caused by the HBB:c.20A>T mutation that leads to hemoglobin S synthesis. 27814292

2016
dbSNP: rs334
rs334
HBB
A 0.850 CausalMutation CLINVAR Prevalence of sickle cell disease in a pediatric population suffering from severe infections: a Congolese experience. 25023084

2014
dbSNP: rs334
rs334
HBB
A 0.850 CausalMutation CLINVAR Prevalence of the β(S) gene among scheduled castes, scheduled tribes and other backward class groups in Central India. 25023085

2014
dbSNP: rs334
rs334
HBB
0.850 GeneticVariation UNIPROT Structure of fully liganded Hb ζ2β2s trapped in a tense conformation. 24100324

2013
dbSNP: rs334
rs334
HBB
0.850 GeneticVariation BEFREE Sickle cell anemia (SCA, HBB glu6val) is characterized by multiple complications and a high degree of phenotypic variability: some subjects have only sporadic pain crises and few acute hospitalizations, while others experience multiple serious complications, high levels of morbidity, and accelerated mortality [1]. 21264913

2011
dbSNP: rs334
rs334
HBB
0.850 GeneticVariation BEFREE Thalassaemia and sickle cell disease (SCD) represent the most common forms of hereditary haemolytic anaemia and result from a partial or complete lack of synthesis of one of the major alpha- or beta-globin chains of haemoglobin A or from a single amino acid mutation (beta(6Glu-->Val)) of the beta-globin chain respectively. 17854302

2007
dbSNP: rs334
rs334
HBB
0.850 GeneticVariation UNIPROT How malaria has affected the human genome and what human genetics can teach us about malaria. 16001361

2005
dbSNP: rs334
rs334
HBB
0.850 GeneticVariation UNIPROT Crystal structure of sickle-cell deoxyhemoglobin at 5 A resolution. 1195378

1975
dbSNP: rs334
rs334
HBB
0.850 GeneticVariation UNIPROT Gene mutations in human haemoglobin: the chemical difference between normal and sickle cell haemoglobin. 13464827

1957
dbSNP: rs1427407
rs1427407
BCL11A
0.710 GeneticVariation BEFREE Five SNPs in the three QTLs (HBG2, rs7482144; BCL11A, rs1427407 and rs10189857; and HBS1L-MYB intergenic region, rs28384513 and rs9399137) were investigated by multiplex PCR and reverse hybridization, and their roles in HbF and clinical phenotype variability in Iraqi Kurds with SCD were assessed. 30216683

2019
dbSNP: rs11886868
rs11886868
BCL11A
0.710 GeneticVariation BEFREE Association of BCL11A genetic variant (rs11886868) with severity in β-thalassaemia major & sickle cell anaemia. 27377501

2016
dbSNP: rs4671393
rs4671393
BCL11A
0.710 GeneticVariation BEFREE rs11886868 and rs4671393 of BCL11A associated with HbF level variation and modulate clinical events among sickle cell anemia patients. 27077760

2016
dbSNP: rs1427407
rs1427407
BCL11A
0.710 GeneticVariation GWASCAT Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania. 25372704

2014
dbSNP: rs7203560
rs7203560
NPRL3
C 0.710 GeneticVariation GWASCAT Perhaps by independently down-regulating expression of the HBA1/HBA2 genes, variants of the HBA1/HBA2 gene regulatory loci, tagged by rs7203560, reduce haemolysis in sickle cell anaemia. 23406172

2013
dbSNP: rs7203560
rs7203560
NPRL3
0.710 GeneticVariation BEFREE Perhaps by independently down-regulating expression of the HBA1/HBA2 genes, variants of the HBA1/HBA2 gene regulatory loci, tagged by rs7203560, reduce haemolysis in sickle cell anaemia. 23406172

2013
dbSNP: rs11886868
rs11886868
BCL11A
0.710 GeneticVariation GWASCAT Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients. 21326311

2011
dbSNP: rs1427407
rs1427407
BCL11A
0.710 GeneticVariation GWASCAT Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients. 21326311

2011
dbSNP: rs4671393
rs4671393
BCL11A
0.710 GeneticVariation GWASCAT Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients. 21326311

2011
dbSNP: rs75853687
rs75853687
LINC01847
A 0.700 GeneticVariation GWASCAT Association at chromosome 5 was nominally replicated in an independent cohort of 130 SCD transfusion recipients, with meta-analysis surpassing genome-wide significance (rs75853687, <i>P</i><sub> 30578281

2018
dbSNP: rs144995469
rs144995469 		T 0.700 GeneticVariation GWASCAT Genome-wide association study of erythrocyte density in sickle cell disease patients. 28552477

2017
dbSNP: rs146893001
rs146893001
PTPN3
C 0.700 GeneticVariation GWASCAT Genome-wide association study of erythrocyte density in sickle cell disease patients. 28552477

2017
dbSNP: rs3115229
rs3115229 		0.700 GeneticVariation GWASCAT Genome-wide association study to identify variants associated with acute severe vaso-occlusive pain in sickle cell anemia. 28584135

2017