SNP Detail For rs4331426
1.Mapping Information
Human SNP ID rs4331426
Human chromosome chr18
Human SNP position 22610832
Pig chromosome chr6
Pig SNP position 100217853
2.Annotation Information
PubMed ID20694014
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20694014
StudyGenome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.
Disease/TraitTuberculosis
Initial sample2,237 Sub-Saharan African ancestry cases, 3,122 Sub-Saharan African ancestry controls
Replication sample1,462 Sub-Saharan African ancestry cases, 4,604 Sub-Saharan African ancestry controls
Region18q11.2
Chromosome idchr18
Chromosome position22610832
Reported geneRBBP8, CABLES1, GATA6, CTAGE1
Mapped geneLOC105372021
Upstream gene id
Downstream gene id
SNP gene ids105372021
Upstream gene distance
Downstream gene distance
SNP risk allelers4331426-G
SNPsrs4331426
Merged0
SNP id current4331426
Contextintergenic_variant
Intergenic0
Allele frequency0.48
P value0.000000007
Pvalue mlog8.15490195998574
P value text
Or beta1.19
%95 Ci[1.10-1.30]
PlatformAffymetrix [> 333754] (imputed)
CNVN
Mapped traitTuberculosis
Mapped trait URIhttp://www.orpha.net/ORDO/Orphanet_3389
Study accessionGCST000764
PubMed ID24057671
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24057671
StudyGenome-wide association study of ancestry-specific TB risk in the South African Coloured population.
Disease/TraitTuberculosis
Initial sample642 South African coloured cases, 91 South African coloured controls, (see Thye 2010)
Replication sampleNA
Region18q11.2
Chromosome idchr18
Chromosome position22610832
Reported geneNR
Mapped geneLOC105372021
Upstream gene id
Downstream gene id
SNP gene ids105372021
Upstream gene distance
Downstream gene distance
SNP risk allelers4331426-?
SNPsrs4331426
Merged0
SNP id current4331426
Contextintergenic_variant
Intergenic0
Allele frequencyNR
P value0.00000002
Pvalue mlog7.69897000433601
P value text(binary model)
Or beta
%95 Ci
PlatformAffymetrix [1009364] (imputed)
CNVN
Mapped traitTuberculosis
Mapped trait URIhttp://www.orpha.net/ORDO/Orphanet_3389
Study accessionGCST002197