SNP Detail For rs4671393
1.Mapping Information
Human SNP ID rs4671393
Human chromosome chr2
Human SNP position 60493816
Pig chromosome chr3
Pig SNP position 85343189
2.Annotation Information
PubMed ID26366553
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/26366553
StudyGenome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels.
Disease/TraitHemoglobin levels
Initial sample6,602 Sardinian founder individuals
Replication sample4,131 European ancestry individuals
Region2p16.1
Chromosome idchr2
Chromosome position60493816
Reported geneBCL11A
Mapped geneBCL11A
Upstream gene id
Downstream gene id
SNP gene ids53335
Upstream gene distance
Downstream gene distance
SNP risk allelers4671393-A
SNPsrs4671393
Merged0
SNP id current4671393
Contextintron_variant
Intergenic0
Allele frequency0.136
P value3E-130
Pvalue mlog129.52287874528
P value text(HbF, Sardinian)
Or beta0.578
%95 Ci[0.53-0.62] g/dl increase
PlatformIllumina [~ 10900000] (imputed)
CNVN
Mapped traithemoglobin measurement, fetal hemoglobin measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004509, http://www.ebi.ac.uk/efo/EFO_0004576
Study accessionGCST003122
PubMed ID21326311
JournalJ Hum Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21326311
StudyGenome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.
Disease/TraitF-cell distribution
Initial sample440 African American individuals
Replication sampleNA
Region2p16.1
Chromosome idchr2;2;2;2;2;2;2;2;2;2;2;2;2;2;2;2;2;2;2;2
Chromosome position60494212;60492835;60496952;60493622;60493454;60493111;60496131;60494176;60491212;60498316;60495106;60490908;60491939;60487726;60493816;60496537;60488044;60496951;60486100;60494905
Reported geneBCL11A
Mapped geneBCL11A; BCL11A; BCL11A; BCL11A; BCL11A; BCL11A; BCL11A; BCL11A; BCL11A; BCL11A; BCL11A; BCL11A; BCL11A; BCL11A; BCL11A; BCL11A; BCL11A; BCL11A; BCL11A; BCL11A
Upstream gene id
Downstream gene id
SNP gene ids
Upstream gene distance
Downstream gene distance
SNP risk allelers7557939-?; rs766432-?; rs1896296-?; rs10172646-?; rs10195871-?; rs11886868-?; rs7565301-?; rs7584113-?; rs7599488-?; rs7606173-?; rs6738440-?; rs1427407-?; rs1896294-?; rs6545816-?; rs4671393-?; rs6729815-?; rs6545817-?; rs1896295-?; rs10189857-?; rs670
SNPsrs7557939; rs766432; rs1896296; rs10172646; rs10195871; rs11886868; rs7565301; rs7584113; rs7599488; rs7606173; rs6738440; rs1427407; rs1896294; rs6545816; rs4671393; rs6729815; rs6545817; rs1896295; rs10189857; rs6706648
Merged0
SNP id current
Contextintron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant;
Intergenic
Allele frequency0.42
P value0.0000002
Pvalue mlog6.69897000433601
P value text
Or beta1.07
%95 Ci[0.68-1.46] unit increase
PlatformIllumina [660740]
CNVN
Mapped traitfetal hemoglobin measurement, Sickle cell anemia
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004576, http://www.orpha.net/ORDO/Orphanet_232
Study accessionGCST000982
PubMed ID21326311
JournalJ Hum Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21326311
StudyGenome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.
Disease/TraitF-cell distribution
Initial sample440 African American individuals
Replication sampleNA
Region2p16.1
Chromosome idchr2;2;2;2;2;2;2;2;2;2;2;2;2;2;2;2;2;2;2;2
Chromosome position60494212;60492835;60496952;60493622;60493454;60493111;60496131;60494176;60491212;60498316;60495106;60490908;60491939;60487726;60493816;60496537;60488044;60496951;60486100;60494905
Reported geneBCL11A
Mapped geneBCL11A; BCL11A; BCL11A; BCL11A; BCL11A; BCL11A; BCL11A; BCL11A; BCL11A; BCL11A; BCL11A; BCL11A; BCL11A; BCL11A; BCL11A; BCL11A; BCL11A; BCL11A; BCL11A; BCL11A
Upstream gene id
Downstream gene id
SNP gene ids
Upstream gene distance
Downstream gene distance
SNP risk allelers7557939-?; rs766432-?; rs1896296-?; rs10172646-?; rs10195871-?; rs11886868-?; rs7565301-?; rs7584113-?; rs7599488-?; rs7606173-?; rs6738440-?; rs1427407-?; rs1896294-?; rs6545816-?; rs4671393-?; rs6729815-?; rs6545817-?; rs1896295-?; rs10189857-?; rs670
SNPsrs7557939; rs766432; rs1896296; rs10172646; rs10195871; rs11886868; rs7565301; rs7584113; rs7599488; rs7606173; rs6738440; rs1427407; rs1896294; rs6545816; rs4671393; rs6729815; rs6545817; rs1896295; rs10189857; rs6706648
Merged0
SNP id current
Contextintron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant; intron_variant;
Intergenic
Allele frequency0.254
P value0.0000000000000002
Pvalue mlog15.698970004336
P value text
Or beta1.98
%95 Ci[1.57-2.39] unit increase
PlatformIllumina [660740]
CNVN
Mapped traitfetal hemoglobin measurement, Sickle cell anemia
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004576, http://www.orpha.net/ORDO/Orphanet_232
Study accessionGCST000982