{{Rsnum
|rsid=9399137
|Chromosome=6
|position=135097880
|Orientation=plus
|GMAF=0.208
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 4.5 | 31.2 | 64.3
| HCB | 6.8 | 36.4 | 56.8
| JPT | 9.8 | 40.2 | 50.0
| YRI | 0.0 | 6.3 | 93.7
| ASW | 0.0 | 15.8 | 84.2
| CHB | 6.8 | 36.4 | 56.8
| CHD | 6.6 | 42.5 | 50.9
| GIH | 3.0 | 22.0 | 75.0
| LWK | 0.0 | 12.7 | 87.3
| MEX | 0.0 | 29.3 | 70.7
| MKK | 0.0 | 11.7 | 88.3
| TSI | 4.0 | 37.0 | 59.0
| HapMapRevision=28
}}{{GWAS Summary
|SNP=rs9399137
|PubMedID=17767159
|Condition=F-cell distribution
|Gene=Intergenic
|Risk Allele=
|pValue=3.00E-036
|OR=15.8
|95CI=NR) % of variance explaine
}}

{{omim
|desc=FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2; HBFQTL2
|id=142470
|rsnum=9399137
}}

{{omim
|desc=SICKLE CELL ANEMIA
|id=603903
|rsnum=9399137
}}

{{PharmGKB
|RSID=rs9399137
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:17767159; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15 (Initial Sample Size: 179 adults in upper and lower 5%; Replication Sample Size: 90 adults). This variant is associated with F-cell distribution.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356399
}}

{{PMID Auto
|PMID=20472475
|Title=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
}}
{{PMID Auto GWAS
|PMID=19853236
|Trait=Hematology traits
|Title=Sequence variants in three loci influence monocyte counts and erythrocyte volume
|RiskAllele=T
|Pval=1E-9
|OR=0.16
|ORtxt=[0.10-0.22] s.d. decrease
|OA=1
}}

{{PMID Auto
|PMID=21068433
|Title=Genetics of fetal hemoglobin in Tanzanian and British patients with sickle cell anemia
}}

{{PMID Auto
|PMID=21791466
|Title=Variants in genetic modifiers of {beta}-thalassemia can help to predict the major or intermedia type of the disease
|OA=1
}}

{{PMID Auto
|PMID=17592125
|Title=Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults.
|OA=1
}}

{{PMID Auto
|PMID=18667698
|Title=DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease.
|OA=1
}}

{{PMID Auto
|PMID=18695233
|Title=Genetic complexity in sickle cell disease.
|OA=1
}}

{{PMID Auto
|PMID=19148297
|Title=Genetic variation on chromosome 6 influences F cell levels in healthy individuals of African descent and HbF levels in sickle cell patients.
|OA=1
}}

{{PMID Auto
|PMID=20401335
|Title=Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.
|OA=1
}}

{{PMID Auto
|PMID=21385855
|Title=A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression.
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs9399137
|overall_frequency_n=19
|overall_frequency_d=122
|overall_frequency=0.155738
|n_genomes=14
|n_genomes_annotated=0
|n_haplomes=15
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto GWAS
  |PMID=23043469
  |Trait=HbA2 levels
  |Title=HbA(2) levels in normal adults are influenced by two distinct genetic mechanisms.
  |RiskAllele=C
  |Pval=5E-9
  |OR=NR
  |ORtxt=NR
  }}

{{PMID Auto GWAS
  |PMID=23263863
  |Trait=Hematology traits
  |Title=GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
  |RiskAllele=T
  |Pval=3E-6
  |OR=.04
  |ORtxt=[0.021-0.051] unit increase
  |OA=1
}}

{{PMID Auto GWAS
  |PMID=22139419
  |Trait=Platelet counts
  |Title=New gene functions in megakaryopoiesis and platelet formation.
  |RiskAllele=C
  |Pval=5E-47
  |OR=5.90
  |ORtxt=[5.1-6.7] 10^9/l increase
  |OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}