Human SNP ID | rs3764147 |
---|---|
Human chromosome | chr13 |
Human SNP position | 43883789 |
Pig chromosome | chr11 |
Pig SNP position | 23607533 |
PubMed ID | 18587394 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/18587394 |
Study | Genome-wide association defines more than 30 distinct susceptibility loci for Crohn__s disease. |
Disease/Trait | Crohn__s disease |
Initial sample | 3,230 European ancestry cases, 4,829 European ancestry controls |
Replication sample | 1,339 European ancestry trios, 2,325 European ancestry cases, 1,809 European ancestry controls |
Region | 13q14.11 |
Chromosome id | chr13 |
Chromosome position | 43883789 |
Reported gene | Unknown |
Mapped gene | LACC1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 144811 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs3764147-G |
SNPs | rs3764147 |
Merged | 0 |
SNP id current | 3764147 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.22 |
P value | 0.0000000000002 |
Pvalue mlog | 12.698970004336 |
P value text | |
Or beta | 1.25 |
%95 Ci | [NR] |
Platform | Affymetrix, Illumina [635547] (imputed) |
CNV | N |
Mapped trait | Crohn__s disease |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0000384 |
Study accession | GCST000207 |
PubMed ID | 20018961 |
Journal | N Engl J Med |
Link | www.ncbi.nlm.nih.gov/pubmed/20018961 |
Study | Genomewide association study of leprosy. |
Disease/Trait | Leprosy |
Initial sample | 706 Han Chinese ancestry cases, 1,225 Han Chinese ancestry controls |
Replication sample | 3,254 Chinese ancestry cases, 5,955 Chinese ancestry controls |
Region | 13q14.11 |
Chromosome id | chr13 |
Chromosome position | 43883789 |
Reported gene | C13orf31 |
Mapped gene | LACC1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 144811 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs3764147-G |
SNPs | rs3764147 |
Merged | 0 |
SNP id current | 3764147 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.31 |
P value | 4E-54 |
Pvalue mlog | 53.397940008672 |
P value text | |
Or beta | 1.68 |
%95 Ci | [1.57-1.80] |
Platform | Illumina [491883] |
CNV | N |
Mapped trait | leprosy |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001054 |
Study accession | GCST000546 |
PubMed ID | 21102463 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/21102463 |
Study | Genome-wide meta-analysis increases to 71 the number of confirmed Crohn__s disease susceptibility loci. |
Disease/Trait | Crohn__s disease |
Initial sample | 6,333 European ancestry cases, 15,056 European ancestry controls |
Replication sample | 15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios |
Region | 13q14.11 |
Chromosome id | chr13 |
Chromosome position | 43883789 |
Reported gene | C13orf31 |
Mapped gene | LACC1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 144811 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs3764147-G |
SNPs | rs3764147 |
Merged | 0 |
SNP id current | 3764147 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.245 |
P value | 0.0000000001 |
Pvalue mlog | 10 |
P value text | |
Or beta | 1.17 |
%95 Ci | [1.12-1.23] |
Platform | Affymetrix, Illumina [953241] (imputed) |
CNV | N |
Mapped trait | Crohn__s disease |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0000384 |
Study accession | GCST000879 |
PubMed ID | 23128233 |
Journal | Nature |
Link | www.ncbi.nlm.nih.gov/pubmed/23128233 |
Study | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. |
Disease/Trait | Crohn__s disease |
Initial sample | Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls |
Replication sample | Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls |
Region | 13q14.11 |
Chromosome id | chr13 |
Chromosome position | 43883789 |
Reported gene | LACC1 |
Mapped gene | LACC1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 144811 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs3764147-G |
SNPs | rs3764147 |
Merged | 0 |
SNP id current | 3764147 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.248 |
P value | 2E-21 |
Pvalue mlog | 20.698970004336 |
P value text | |
Or beta | 1.155 |
%95 Ci | [1.112-1.199] |
Platform | Affymetrix, Illumina [1230000] (imputed) |
CNV | N |
Mapped trait | Crohn__s disease |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0000384 |
Study accession | GCST001729 |
PubMed ID | 26192919 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/26192919 |
Study | Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. |
Disease/Trait | Inflammatory bowel disease |
Initial sample | 12,882 European ancestry cases, 21,770 European ancestry controls |
Replication sample | 25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls |
Region | 13q14.11 |
Chromosome id | chr13 |
Chromosome position | 43883789 |
Reported gene | NR |
Mapped gene | LACC1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 144811 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs3764147-G |
SNPs | rs3764147 |
Merged | 0 |
SNP id current | 3764147 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.2297 |
P value | 0.0000000000000009 |
Pvalue mlog | 15.0457574905606 |
P value text | (EA) |
Or beta | 1.099218 |
%95 Ci | [1.08-1.12] |
Platform | Affymetrix, Illumina [~ 9000000] (imputed) |
CNV | N |
Mapped trait | inflammatory bowel disease |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0003767 |
Study accession | GCST003043 |