Human SNP ID | rs17696736 |
---|---|
Human chromosome | chr12 |
Human SNP position | 112049014 |
Pig chromosome | chr14 |
Pig SNP position | 42148012 |
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 | 12q24.13 |
Chromosome id | chr12 |
Chromosome position | 112049014 |
Reported gene | SH2B3, TRAFD1, PTPN11, LNK |
Mapped gene | NAA25 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 80018 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs17696736-G |
SNPs | rs17696736 |
Merged | 0 |
SNP id current | 17696736 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.42 |
P value | 0.00000000000002 |
Pvalue mlog | 13.698970004336 |
P value text | |
Or beta | 1.34 |
%95 Ci | [1.16-1.53] |
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 | 12q24.13 |
Chromosome id | chr12 |
Chromosome position | 112049014 |
Reported gene | C12orf30 |
Mapped gene | NAA25 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 80018 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs17696736-G |
SNPs | rs17696736 |
Merged | 0 |
SNP id current | 17696736 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.42 |
P value | 0.0000000000000002 |
Pvalue mlog | 15.698970004336 |
P value text | |
Or beta | 1.22 |
%95 Ci | [1.15-1.28] |
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 | 12q24.13 |
Chromosome id | chr12 |
Chromosome position | 112049014 |
Reported gene | C12orf30 |
Mapped gene | NAA25 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 80018 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs17696736-G |
SNPs | rs17696736 |
Merged | 0 |
SNP id current | 17696736 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 0.000000000000000006 |
Pvalue mlog | 17.2218487496163 |
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 | 24262325 |
Journal | Stroke |
Link | www.ncbi.nlm.nih.gov/pubmed/24262325 |
Study | Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. |
Disease/Trait | Ischemic stroke |
Initial sample | 12,389 cases, 62,004 controls |
Replication sample | NA |
Region | 12q24.13 |
Chromosome id | chr12 |
Chromosome position | 112049014 |
Reported gene | SH2B3 |
Mapped gene | NAA25 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 80018 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs17696736-G |
SNPs | rs17696736 |
Merged | 0 |
SNP id current | 17696736 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 0.00000006 |
Pvalue mlog | 7.22184874961635 |
P value text | |
Or beta | 1.1 |
%95 Ci | [1.06-1.14] |
Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
CNV | N |
Mapped trait | stroke |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0000712 |
Study accession | GCST002286 |