SNP Detail For rs1329568
1.Mapping Information
Human SNP ID rs1329568
Human chromosome chr9
Human SNP position 37037979
Pig chromosome chr1
Pig SNP position 265638882
2.Annotation Information
PubMed ID22491018
JournalPharmacogenomics J
Linkwww.ncbi.nlm.nih.gov/pubmed/22491018
StudyGenome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.
Disease/TraitResponse to tocilizumab in rheumatoid arthritis
Initial sample1,157 European and other ancestry rheumatoid arthritis cases
Replication sample526 European and other ancestry rheumatoid arthritis cases
Region9p13.2
Chromosome idchr9
Chromosome position37037979
Reported geneintergenic
Mapped genePAX5 - EBLN3
Upstream gene id5079
Downstream gene id100506710
SNP gene ids
Upstream gene distance2660
Downstream gene distance41917
SNP risk allelers1329568-?
SNPsrs1329568
Merged0
SNP id current1329568
Contextupstream_gene_variant
Intergenic1
Allele frequency0.029
P value0.0000008
Pvalue mlog6.09691001300805
P value text(CSJC, RF-)
Or beta19.64
%95 Ci[NR] unit increase
PlatformIllumina [534053]
CNVN
Mapped traitrheumatoid arthritis, response to drug
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000685, http://purl.obolibrary.org/obo/GO_0042493
Study accessionGCST001476
PubMed ID25786224
JournalPLoS One
Linkwww.ncbi.nlm.nih.gov/pubmed/25786224
StudyNovel Genetic Locus Implicated for HIV-1 Acquisition with Putative Regulatory Links to HIV Replication and Infectivity: A Genome-Wide Association Study.
Disease/TraitHIV-1 susceptibility
Initial sample628 African American high risk-cases, 1,376 African American high-risk controls, 327 European ancestry high-risk cases, 805 European ancestry high-risk controls
Replication sample1,395 African American high-risk cases, 457 African American high-risk controls, 513 European ancestry high-risk cases, 168 European ancestry high-risk controls
Region9p13.2
Chromosome idchr9;9
Chromosome position37654260;37037979
Reported geneFRMPD1
Mapped geneFRMPD1; PAX5 - EBLN3
Upstream gene id
Downstream gene id
SNP gene ids
Upstream gene distance
Downstream gene distance
SNP risk allelers4878712-A; rs1329568-T
SNPsrs4878712; rs1329568
Merged0
SNP id current
Contextintron_variant; upstream_gene_variant
Intergenic
Allele frequency
P value0.0000007
Pvalue mlog6.15490195998574
P value text(AA)
Or beta1.64
%95 Ci[1.32-2.00]
PlatformIllumina [~ 8000000] (imputed)
CNVN
Mapped traitHIV-1 infection, Susceptibility to viral and mycobacterial infections
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000180, http://www.orpha.net/ORDO/Orphanet_391311
Study accessionGCST002818
PubMed ID25786224
JournalPLoS One
Linkwww.ncbi.nlm.nih.gov/pubmed/25786224
StudyNovel Genetic Locus Implicated for HIV-1 Acquisition with Putative Regulatory Links to HIV Replication and Infectivity: A Genome-Wide Association Study.
Disease/TraitHIV-1 susceptibility
Initial sample628 African American high risk-cases, 1,376 African American high-risk controls, 327 European ancestry high-risk cases, 805 European ancestry high-risk controls
Replication sample1,395 African American high-risk cases, 457 African American high-risk controls, 513 European ancestry high-risk cases, 168 European ancestry high-risk controls
Region9p13.2
Chromosome idchr9;9
Chromosome position37654260;37037979
Reported geneFRMPD1
Mapped geneFRMPD1; PAX5 - EBLN3
Upstream gene id
Downstream gene id
SNP gene ids
Upstream gene distance
Downstream gene distance
SNP risk allelers4878712-A; rs1329568-T
SNPsrs4878712; rs1329568
Merged0
SNP id current
Contextintron_variant; upstream_gene_variant
Intergenic
Allele frequency
P value0.00000005
Pvalue mlog7.30102999566398
P value text
Or beta
%95 Ci
PlatformIllumina [~ 8000000] (imputed)
CNVN
Mapped traitHIV-1 infection, Susceptibility to viral and mycobacterial infections
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000180, http://www.orpha.net/ORDO/Orphanet_391311
Study accessionGCST002818