SNP Detail For rs6706648
1.Mapping Information
Human SNP ID rs6706648
Human chromosome chr2
Human SNP position 60494905
Pig chromosome chr3
Pig SNP position 85342121
2.Annotation Information
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