Human SNP ID | rs183211 |
---|---|
Human chromosome | chr17 |
Human SNP position | 46710944 |
Pig chromosome | chr12 |
Pig SNP position | 17607658 |
PubMed ID | 21812969 |
---|---|
Journal | BMC Med Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/21812969 |
Study | Genome-wide association study identifies candidate genes for Parkinson__s disease in an Ashkenazi Jewish population. |
Disease/Trait | Parkinson__s disease |
Initial sample | 268 Ashkenazi Jewish cases, 178 Ashkenazi Jewish controls |
Replication sample | 1,782 European ancestry cases, 1,658 European ancestry controls |
Region | 17q21.31 |
Chromosome id | chr17 |
Chromosome position | 46710944 |
Reported gene | NSF |
Mapped gene | NSF |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 4905 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs183211-T |
SNPs | rs183211 |
Merged | 0 |
SNP id current | 183211 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.24 |
P value | 0.0000003 |
Pvalue mlog | 6.52287874528033 |
P value text | |
Or beta | |
%95 Ci | |
Platform | Illumina [525124] |
CNV | N |
Mapped trait | Parkinson__s disease |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0002508 |
Study accession | GCST001189 |
PubMed ID | 23544013 |
Journal | PLoS Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/23544013 |
Study | Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. |
Disease/Trait | Ovarian cancer in BRCA1 mutation carriers |
Initial sample | 683 European ancestry cases, 2,044 European ancestry controls |
Replication sample | 1,706 European ancestry cases, 10,258 European ancestry controls |
Region | 17q21.31 |
Chromosome id | chr17 |
Chromosome position | 46710944 |
Reported gene | intergenic |
Mapped gene | NSF |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 4905 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs183211-A |
SNPs | rs183211 |
Merged | 0 |
SNP id current | 183211 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.23 |
P value | 0.00000003 |
Pvalue mlog | 7.52287874528033 |
P value text | |
Or beta | 1.25 |
%95 Ci | [1.16-1.35] |
Platform | Illumina [2568349] (imputed) |
CNV | N |
Mapped trait | ovarian carcinoma |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001075 |
Study accession | GCST001917 |
PubMed ID | 23544013 |
Journal | PLoS Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/23544013 |
Study | Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. |
Disease/Trait | Ovarian cancer in BRCA1 mutation carriers |
Initial sample | 683 European ancestry cases, 2,044 European ancestry controls |
Replication sample | 1,706 European ancestry cases, 10,258 European ancestry controls |
Region | 17q21.31 |
Chromosome id | chr17 |
Chromosome position | 46710944 |
Reported gene | NR |
Mapped gene | NSF |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 4905 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs183211-? |
SNPs | rs183211 |
Merged | 0 |
SNP id current | 183211 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 0.00000003 |
Pvalue mlog | 7.52287874528033 |
P value text | |
Or beta | |
%95 Ci | |
Platform | Illumina [2568349] (imputed) |
CNV | N |
Mapped trait | ovarian carcinoma |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001075 |
Study accession | GCST001917 |
PubMed ID | 25581431 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/25581431 |
Study | Identification of six new susceptibility loci for invasive epithelial ovarian cancer. |
Disease/Trait | Epithelial ovarian cancer |
Initial sample | 4,368 European ancestry cases, 9,123 European ancestry controls, |
Replication sample | 2,462 European ancestry BRCA1 mutation carrier cases, 12,790 European ancestry BRCA1 mutation carrier controls, up to 631 European ancestry BRCA2 mutation carrier cases, 7,580 European ancestry BRCA2 mutation carrier controls, 9,627 European ancestry sero |
Region | 17q21.31 |
Chromosome id | chr17 |
Chromosome position | 46710944 |
Reported gene | PLEKHM1 |
Mapped gene | NSF |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 4905 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs183211-A |
SNPs | rs183211 |
Merged | 0 |
SNP id current | 183211 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.24 |
P value | 0.0000000000002 |
Pvalue mlog | 12.698970004336 |
P value text | |
Or beta | 1.11 |
%95 Ci | [1.07-1.16] |
Platform | Illumina [up to 10962898] (imputed) |
CNV | N |
Mapped trait | Malignant epithelial tumor of ovary |
Mapped trait URI | http://www.orpha.net/ORDO/Orphanet_398934 |
Study accession | GCST002748 |