| GWAS
|
| SNP
|
rs9399137
|
| PubMedID
|
[PMID 17767159]
|
| Condition
|
F-cell distribution
|
| Gene
|
Intergenic
|
| Risk Allele
|
|
| pValue
|
3.00E-036
|
| OR
|
15.8
|
| 95% CI
|
NR) % of variance explaine
|
| OMIM | 142470 |
| Desc | FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2; HBFQTL2 |
| Variant | |
| Related | also |
[PMID 20472475] The XmnI (G)gamma polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57 beta-thalassemia intermedia patients
| GWAS snp
|
| PMID
|
[PMID 19853236 ]
|
| Trait
|
Hematology traits
|
| Title
|
Sequence variants in three loci influence monocyte counts and erythrocyte volume
|
| Risk Allele
|
T
|
| P-val
|
1E-9
|
| Odds Ratio
|
0.16 [0.10-0.22] s.d. decrease
|
[PMID 21068433] Genetics of fetal hemoglobin in Tanzanian and British patients with sickle cell anemia
[PMID 21791466] Variants in genetic modifiers of {beta}-thalassemia can help to predict the major or intermedia type of the disease
[PMID 17592125] Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults.
[PMID 18667698] DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease.
[PMID 18695233] Genetic complexity in sickle cell disease.
[PMID 19148297] Genetic variation on chromosome 6 influences F cell levels in healthy individuals of African descent and HbF levels in sickle cell patients.
[PMID 20401335] Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.
[PMID 21385855] A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression.
| GWAS snp
|
| PMID
|
[PMID 23043469]
|
| Trait
|
HbA2 levels
|
| Title
|
HbA(2) levels in normal adults are influenced by two distinct genetic mechanisms.
|
| Risk Allele
|
C
|
| P-val
|
5E-9
|
| Odds Ratio
|
NR NR
|
| GWAS snp
|
| PMID
|
[PMID 23263863]
|
| Trait
|
Hematology traits
|
| Title
|
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
|
| Risk Allele
|
T
|
| P-val
|
3E-6
|
| Odds Ratio
|
.04 [0.021-0.051] unit increase
|
| GWAS snp
|
| PMID
|
[PMID 22139419]
|
| Trait
|
Platelet counts
|
| Title
|
New gene functions in megakaryopoiesis and platelet formation.
|
| Risk Allele
|
C
|
| P-val
|
5E-47
|
| Odds Ratio
|
5.90 [5.1-6.7] 10^9/l increase
|
| GWAS snp
|
| PMID
|
[PMID 24647736]
|
| Trait
|
Glycated hemoglobin levels
|
| Title
|
Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.
|
| Risk Allele
|
T
|
| P-val
|
9E-15
|
| Odds Ratio
|
.07 [0.050-0.090] unit increase
|
| GWAS snp
|
| PMID
|
[PMID 24026423]
|
| Trait
|
Platelet counts
|
| Title
|
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
|
| Risk Allele
|
T
|
| P-val
|
8E-10
|
| Odds Ratio
|
5.51 [NR] unit decrease
|
[PMID 25651163] Genetics of fetal hemoglobin in tribal Indian patients with sickle cell anemia
[PMID 25806420] Genetic Modifiers of Sickle Cell Disease: A Genotype-Phenotype Relationship Study in a Cohort of 82 Children on Mayotte Island
[PMID 28361591] Genetic Variants at BCL11A and HBS1L-MYB loci Influence Hb F Levels in Chinese Zhuang β-Thalassemia Intermedia Patients.
[PMID 32387854] The association of HBG2, BCL11A, and HBS1L-MYB polymorphisms to thalidomide response in Chinese β-thalassemia patients.
]
