SNP Detail For rs240993
1.Mapping Information
Human SNP ID rs240993
Human chromosome chr6
Human SNP position 111352511
Pig chromosome chr1
Pig SNP position 86579812
2.Annotation Information
PubMed ID20953190
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20953190
StudyA genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.
Disease/TraitPsoriasis
Initial sample2,178 European ancestry cases, 5,175 European ancestry controls
Replication sample3,174 European ancestry cases, 5,464 European ancestry controls
Region6q21
Chromosome idchr6
Chromosome position111352511
Reported geneTRAF3IP2
Mapped geneREV3L
Upstream gene id
Downstream gene id
SNP gene ids5980
Upstream gene distance
Downstream gene distance
SNP risk allelers240993-A
SNPsrs240993
Merged0
SNP id current240993
Contextintron_variant
Intergenic0
Allele frequency0.25
P value5E-20
Pvalue mlog19.3010299956639
P value text
Or beta1.25
%95 Ci[1.16-1.34]
PlatformIllumina [535475]
CNVN
Mapped traitpsoriasis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000676
Study accessionGCST000833
PubMed ID25574825
JournalAm J Hum Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/25574825
StudyGenome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.
Disease/TraitPsoriasis
Initial sample4,212 European ancestry cases, 8,032 European ancestry controls
Replication sampleNA
Region6q21
Chromosome idchr6
Chromosome position111352511
Reported geneTRAF3IP2
Mapped geneREV3L
Upstream gene id
Downstream gene id
SNP gene ids5980
Upstream gene distance
Downstream gene distance
SNP risk allelers240993-T
SNPsrs240993
Merged0
SNP id current240993
Contextintron_variant
Intergenic0
Allele frequencyNR
P value0.00000000000001
Pvalue mlog14
P value text
Or beta1.282
%95 Ci[1.241-1.324]
PlatformAffymetrix, Illumina, Perlegen [up to 5493100] (imputed)
CNVN
Mapped traitpsoriasis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000676
Study accessionGCST002738
PubMed ID25574825
JournalAm J Hum Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/25574825
StudyGenome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms.
Disease/TraitInflammatory skin disease
Initial sample2,079 European ancestry atopic dermatitis cases, 4,212 European ancestry psoriasis cases, 11,899 European ancestry controls
Replication sampleNA
Region6q21
Chromosome idchr6
Chromosome position111352511
Reported geneREV3L
Mapped geneREV3L
Upstream gene id
Downstream gene id
SNP gene ids5980
Upstream gene distance
Downstream gene distance
SNP risk allelers240993-?
SNPsrs240993
Merged0
SNP id current240993
Contextintron_variant
Intergenic0
Allele frequencyNR
P value0.000000000000000006
Pvalue mlog17.2218487496163
P value text(Psoriasis)
Or beta
%95 Ci
PlatformAffymetrix, Illumina [~ 5200000]
CNVN
Mapped traitpsoriasis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000676
Study accessionGCST002740
PubMed ID25903422
JournalNat Commun
Linkwww.ncbi.nlm.nih.gov/pubmed/25903422
StudyGenome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.
Disease/TraitPsoriasis
Initial sample3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls
Replication sample5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls
Region6q21
Chromosome idchr6
Chromosome position111352511
Reported geneTRAF3IP2
Mapped geneREV3L
Upstream gene id
Downstream gene id
SNP gene ids5980
Upstream gene distance
Downstream gene distance
SNP risk allelers240993-T
SNPsrs240993
Merged0
SNP id current240993
Contextintron_variant
Intergenic0
Allele frequency0.26876
P value0.00000001
Pvalue mlog8
P value text(EA)
Or beta1.2
%95 Ci[1.15-1.26]
PlatformIllumina [up to 4778154] (imputed)
CNVN
Mapped traitpsoriasis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000676
Study accessionGCST002874
PubMed ID25903422
JournalNat Commun
Linkwww.ncbi.nlm.nih.gov/pubmed/25903422
StudyGenome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.
Disease/TraitPsoriasis
Initial sample3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls
Replication sample5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls
Region6q21
Chromosome idchr6
Chromosome position111352511
Reported geneTRAF3IP2
Mapped geneREV3L
Upstream gene id
Downstream gene id
SNP gene ids5980
Upstream gene distance
Downstream gene distance
SNP risk allelers240993-T
SNPsrs240993
Merged0
SNP id current240993
Contextintron_variant
Intergenic0
Allele frequency0.26876
P value0.0000009
Pvalue mlog6.04575749056067
P value text
Or beta1.15
%95 Ci[1.09-1.22]
PlatformIllumina [up to 4778154] (imputed)
CNVN
Mapped traitpsoriasis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000676
Study accessionGCST002874