Human SNP ID | rs12708716 |
---|---|
Human chromosome | chr16 |
Human SNP position | 11086016 |
Pig chromosome | JH118627-1 |
Pig SNP position | 64297 |
PubMed ID | 17554300 |
---|---|
Journal | Nature |
Link | www.ncbi.nlm.nih.gov/pubmed/17554300 |
Study | Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. |
Disease/Trait | Type 1 diabetes |
Initial sample | 1,963 European ancestry cases, 2,938 European ancestry controls |
Replication sample | (see Todd 2007) |
Region | 16p13.13 |
Chromosome id | chr16 |
Chromosome position | 11086016 |
Reported gene | KIAA0350 |
Mapped gene | CLEC16A |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 23274 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs12708716-A |
SNPs | rs12708716 |
Merged | 0 |
SNP id current | 12708716 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.65 |
P value | 0.0000005 |
Pvalue mlog | 6.30102999566398 |
P value text | |
Or beta | 1.19 |
%95 Ci | [0.97-1.45] |
Platform | Affymetrix [469557] |
CNV | N |
Mapped trait | type I diabetes mellitus |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001359 |
Study accession | GCST000043 |
PubMed ID | 17554260 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/17554260 |
Study | Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. |
Disease/Trait | Type 1 diabetes |
Initial sample | 2,000 European ancestry cases, 3,000 European ancestry controls |
Replication sample | 2,997 European ancestry trios, 4,000 European ancestry cases, 5,000 European ancestry controls |
Region | 16p13.13 |
Chromosome id | chr16 |
Chromosome position | 11086016 |
Reported gene | KIAA0350 |
Mapped gene | CLEC16A |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 23274 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs12708716-A |
SNPs | rs12708716 |
Merged | 0 |
SNP id current | 12708716 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.68 |
P value | 0.000000000000000003 |
Pvalue mlog | 17.5228787452803 |
P value text | |
Or beta | 1.23 |
%95 Ci | [1.16-1.30] |
Platform | Affymetrix [NR] |
CNV | N |
Mapped trait | type I diabetes mellitus |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001359 |
Study accession | GCST000038 |
PubMed ID | 18978792 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/18978792 |
Study | Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. |
Disease/Trait | Type 1 diabetes |
Initial sample | 3,561 European ancestry cases, 4,646 European ancestry controls |
Replication sample | 6,225 European ancestry cases, 6,946 European ancestry controls, 3,064 European ancestry trios from 2,828 families |
Region | 16p13.13 |
Chromosome id | chr16 |
Chromosome position | 11086016 |
Reported gene | CLEC16A |
Mapped gene | CLEC16A |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 23274 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs12708716-G |
SNPs | rs12708716 |
Merged | 0 |
SNP id current | 12708716 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 0.0000000000007 |
Pvalue mlog | 12.1549019599857 |
P value text | |
Or beta | |
%95 Ci | |
Platform | Affymetrix [up to 335565] |
CNV | N |
Mapped trait | type I diabetes mellitus |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001359 |
Study accession | GCST000258 |
PubMed ID | 21829393 |
Journal | PLoS Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/21829393 |
Study | Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. |
Disease/Trait | Type 1 diabetes autoantibodies |
Initial sample | 12,501 European ancestry cases |
Replication sample | 3,598 sibling cases |
Region | 16p13.13 |
Chromosome id | chr16 |
Chromosome position | 11086016 |
Reported gene | CLEC16A |
Mapped gene | CLEC16A |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 23274 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs12708716-G |
SNPs | rs12708716 |
Merged | 0 |
SNP id current | 12708716 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 0.00000000000005 |
Pvalue mlog | 13.3010299956639 |
P value text | (T1D) |
Or beta | 1.2 |
%95 Ci | [NR] |
Platform | Affymetrix, Illumina [NR] |
CNV | N |
Mapped trait | type I diabetes mellitus, autoantibody measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001359, http://www.ebi.ac.uk/efo/EFO_0004866 |
Study accession | GCST001191 |
PubMed ID | 19430480 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/19430480 |
Study | Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. |
Disease/Trait | Type 1 diabetes |
Initial sample | 7,514 cases, 9,045 controls |
Replication sample | 4,267 cases, 4,670 controls, 4,342 trios from 2,319 families |
Region | 16p13.13 |
Chromosome id | chr16 |
Chromosome position | 11086016 |
Reported gene | CLEC16A |
Mapped gene | CLEC16A |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 23274 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs12708716-? |
SNPs | rs12708716 |
Merged | 0 |
SNP id current | 12708716 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 0.0000000000000002 |
Pvalue mlog | 15.698970004336 |
P value text | |
Or beta | |
%95 Ci | |
Platform | Affymetrix, Illumina [841622] (imputed) |
CNV | N |
Mapped trait | type I diabetes mellitus |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001359 |
Study accession | GCST000392 |