SNP Detail For rs502716
1.Mapping Information
Human SNP ID rs502716
Human chromosome chr20
Human SNP position 945754
Pig chromosome chr17
Pig SNP position 39028106
2.Annotation Information
PubMed ID24554482
JournalJ Neurovirol
Linkwww.ncbi.nlm.nih.gov/pubmed/24554482
StudyGenome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
Disease/TraitResponse to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 1 peripheral neuropathy)
Initial sample40 European ancestry cases, 37 African American cases, 13 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls
Replication sampleNA
Region20p13
Chromosome idchr20
Chromosome position945754
Reported geneRSP04
Mapped geneLOC105372492 - RSPO4
Upstream gene id105372492
Downstream gene id343637
SNP gene ids
Upstream gene distance7592
Downstream gene distance12698
SNP risk allelers502716-?
SNPsrs502716
Merged0
SNP id current502716
Contextintergenic_variant
Intergenic1
Allele frequency
P value0.000004
Pvalue mlog5.39794000867203
P value text(Hispanic)
Or beta14
%95 Ci[NR]
PlatformIllumina [936149]
CNVN
Mapped traitresponse to reverse transcriptase inhibitor, HIV-1 infection, peripheral neuropathy
Mapped trait URIhttp://purl.obolibrary.org/obo/GO_0061479, http://www.ebi.ac.uk/efo/EFO_0000180, http://www.ebi.ac.uk/efo/EFO_0003100
Study accessionGCST002366
PubMed ID24554482
JournalJ Neurovirol
Linkwww.ncbi.nlm.nih.gov/pubmed/24554482
StudyGenome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
Disease/TraitResponse to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 2 peripheral neuropathy)
Initial sample19 European ancestry cases, 30 African American cases, 9 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls
Replication sampleNA
Region20p13
Chromosome idchr20
Chromosome position945754
Reported geneRSP04
Mapped geneLOC105372492 - RSPO4
Upstream gene id105372492
Downstream gene id343637
SNP gene ids
Upstream gene distance7592
Downstream gene distance12698
SNP risk allelers502716-?
SNPsrs502716
Merged0
SNP id current502716
Contextintergenic_variant
Intergenic1
Allele frequency
P value0.00000003
Pvalue mlog7.52287874528033
P value text(Hispanic)
Or beta28
%95 Ci[NR]
PlatformIllumina [936149]
CNVN
Mapped traitresponse to reverse transcriptase inhibitor, HIV-1 infection, peripheral neuropathy
Mapped trait URIhttp://purl.obolibrary.org/obo/GO_0061479, http://www.ebi.ac.uk/efo/EFO_0000180, http://www.ebi.ac.uk/efo/EFO_0003100
Study accessionGCST002365