SNP Detail For rs6897932
1.Mapping Information
Human SNP ID rs6897932
Human chromosome chr5
Human SNP position 35874473
Pig chromosome chr16
Pig SNP position 22310163
2.Annotation Information
PubMed ID17660530
JournalN Engl J Med
Linkwww.ncbi.nlm.nih.gov/pubmed/17660530
StudyRisk alleles for multiple sclerosis identified by a genomewide study.
Disease/TraitMultiple sclerosis
Initial sample931 European ancestry trios, 2,431 European ancestry controls
Replication sample609 European ancestry trios, 2,322 European ancestry cases, 2,987 European ancestry controls
Region5p13.2
Chromosome idchr5
Chromosome position35874473
Reported geneIL7RA
Mapped geneIL7R
Upstream gene id
Downstream gene id
SNP gene ids3575
Upstream gene distance
Downstream gene distance
SNP risk allelers6897932-C
SNPsrs6897932
Merged0
SNP id current6897932
Contextmissense_variant
Intergenic0
Allele frequency0.75
P value0.0000003
Pvalue mlog6.52287874528033
P value text
Or beta1.18
%95 Ci[1.11-1.26]
PlatformAffymetrix [334923]
CNVN
Mapped traitmultiple sclerosis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003885
Study accessionGCST000062
PubMed ID17554260
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/17554260
StudyRobust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
Disease/TraitType 1 diabetes
Initial sample2,000 European ancestry cases, 3,000 European ancestry controls
Replication sample2,997 European ancestry trios, 4,000 European ancestry cases, 5,000 European ancestry controls
Region5p13.2
Chromosome idchr5
Chromosome position35874473
Reported geneIL7R
Mapped geneIL7R
Upstream gene id
Downstream gene id
SNP gene ids3575
Upstream gene distance
Downstream gene distance
SNP risk allelers6897932-G
SNPsrs6897932
Merged0
SNP id current6897932
Contextmissense_variant
Intergenic0
Allele frequency0.71
P value0.000008
Pvalue mlog5.09691001300805
P value text
Or beta1.12
%95 Ci[1.06-1.19]
PlatformAffymetrix [NR]
CNVN
Mapped traittype I diabetes mellitus
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001359
Study accessionGCST000038
PubMed ID19525953
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19525953
StudyMeta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.
Disease/TraitMultiple sclerosis
Initial sample2,624 European ancestry cases, 7,220 European ancestry controls
Replication sample2,215 European ancestry cases, 2,116 European ancestry controls
Region5p13.2
Chromosome idchr5
Chromosome position35874473
Reported geneIL7R
Mapped geneIL7R
Upstream gene id
Downstream gene id
SNP gene ids3575
Upstream gene distance
Downstream gene distance
SNP risk allelers6897932-C
SNPsrs6897932
Merged0
SNP id current6897932
Contextmissense_variant
Intergenic0
Allele frequency0.75
P value0.000002
Pvalue mlog5.69897000433601
P value text
Or beta1.12
%95 Ci[1.02-1.23]
PlatformAffymetrix, Illumina [~ 2560000] (imputed)
CNVN
Mapped traitmultiple sclerosis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003885
Study accessionGCST000424
PubMed ID21833088
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/21833088
StudyGenetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
Disease/TraitMultiple sclerosis
Initial sample9,772 European ancestry cases, 16,849 European ancestry controls
Replication sample4,218 European ancestry cases, 7,296 European ancestry controls
Region5p13.2
Chromosome idchr5
Chromosome position35874473
Reported geneIL7R
Mapped geneIL7R
Upstream gene id
Downstream gene id
SNP gene ids3575
Upstream gene distance
Downstream gene distance
SNP risk allelers6897932-G
SNPsrs6897932
Merged0
SNP id current6897932
Contextmissense_variant
Intergenic0
Allele frequencyNR
P value0.00000002
Pvalue mlog7.69897000433601
P value text
Or beta1.11
%95 Ci[1.09-1.13]
PlatformIllumina [465434]
CNVN
Mapped traitmultiple sclerosis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003885
Study accessionGCST001198