SNP Detail For rs13397985
1.Mapping Information
Human SNP ID rs13397985
Human chromosome chr2
Human SNP position 230226508
Pig chromosome chr15
Pig SNP position 144912599
2.Annotation Information
PubMed ID18758461
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/18758461
StudyA genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia.
Disease/TraitChronic lymphocytic leukemia
Initial sample505 European ancestry cases, 1,438 European ancestry controls
Replication sample1,024 European ancestry cases, 1,677 European ancestry controls
Region2q37.1
Chromosome idchr2
Chromosome position230226508
Reported geneSP140, SP110
Mapped geneSP140
Upstream gene id
Downstream gene id
SNP gene ids11262
Upstream gene distance
Downstream gene distance
SNP risk allelers13397985-G
SNPsrs13397985
Merged0
SNP id current13397985
Contextintron_variant
Intergenic0
Allele frequency0.19
P value0.0000000006
Pvalue mlog9.22184874961635
P value text
Or beta1.41
%95 Ci[1.26-1.57]
PlatformIllumina [345665]
CNVN
Mapped traitchronic lymphocytic leukemia
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000095
Study accessionGCST000224
PubMed ID22700719
JournalBlood
Linkwww.ncbi.nlm.nih.gov/pubmed/22700719
StudyCommon variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia.
Disease/TraitChronic lymphocytic leukemia
Initial sample1,121 European ancestry cases, 3,745 European ancestry controls
Replication sample861 European ancestry cases, 2,033 European ancestry controls
Region2q37.1
Chromosome idchr2
Chromosome position230226508
Reported geneNR
Mapped geneSP140
Upstream gene id
Downstream gene id
SNP gene ids11262
Upstream gene distance
Downstream gene distance
SNP risk allelers13397985-?
SNPsrs13397985
Merged0
SNP id current13397985
Contextintron_variant
Intergenic0
Allele frequency0.81
P value0.0000002
Pvalue mlog6.69897000433601
P value text
Or beta1.39
%95 Ci[1.23-1.59]
PlatformAffymetrix, Illumina [~ 1500000] (imputed)
CNVN
Mapped traitchronic lymphocytic leukemia
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000095
Study accessionGCST001570
PubMed ID23770605
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23770605
StudyGenome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
Disease/TraitChronic lymphocytic leukemia
Initial sample2,179 European ancestry cases, 6,221 European ancestry controls
Replication sample1,709 European ancestry cases, 6,318 European ancestry controls
Region2q37.1
Chromosome idchr2
Chromosome position230226508
Reported geneSP140
Mapped geneSP140
Upstream gene id
Downstream gene id
SNP gene ids11262
Upstream gene distance
Downstream gene distance
SNP risk allelers13397985-G
SNPsrs13397985
Merged0
SNP id current13397985
Contextintron_variant
Intergenic0
Allele frequency0.18
P value1E-22
Pvalue mlog22
P value text
Or beta1.45
%95 Ci[NR]
PlatformIllumina [549934]
CNVN
Mapped traitchronic lymphocytic leukemia
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000095
Study accessionGCST002073
PubMed ID24292274
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24292274
StudyA genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
Disease/TraitChronic lymphocytic leukemia
Initial sample1,739 European ancestry cases, 5,199 European ancestry controls
Replication sample1,144 European ancestry cases, 3,151 European ancestry controls
Region2q37.1
Chromosome idchr2
Chromosome position230226508
Reported geneSP140, SP110
Mapped geneSP140
Upstream gene id
Downstream gene id
SNP gene ids11262
Upstream gene distance
Downstream gene distance
SNP risk allelers13397985-G
SNPsrs13397985
Merged0
SNP id current13397985
Contextintron_variant
Intergenic0
Allele frequency0.19
P value0.0000000000005
Pvalue mlog12.3010299956639
P value text
Or beta1.43
%95 Ci[NR]
PlatformIllumina [450000] (imputed)
CNVN
Mapped traitchronic lymphocytic leukemia
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000095
Study accessionGCST002299