Human SNP ID | rs16826658 |
---|---|
Human chromosome | chr1 |
Human SNP position | 22159378 |
Pig chromosome | chr6 |
Pig SNP position | 74180753 |
PubMed ID | 20601957 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/20601957 |
Study | A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese. |
Disease/Trait | Endometriosis |
Initial sample | 1,423 Japanese ancestry cases, 1,318 Japanese ancestry controls |
Replication sample | 484 Japanese ancestry cases, 3,974 Japanese ancestry controls |
Region | 1p36.12 |
Chromosome id | chr1 |
Chromosome position | 22159378 |
Reported gene | WNT4 |
Mapped gene | LOC105376845 - LOC105376850 |
Upstream gene id | 105376845 |
Downstream gene id | 105376850 |
SNP gene ids | |
Upstream gene distance | 1993 |
Downstream gene distance | 4006 |
SNP risk allele | rs16826658-G |
SNPs | rs16826658 |
Merged | 0 |
SNP id current | 16826658 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.523 |
P value | 0.000002 |
Pvalue mlog | 5.69897000433601 |
P value text | |
Or beta | 1.2 |
%95 Ci | [1.11-1.29] |
Platform | Illumina [460945] |
CNV | N |
Mapped trait | endometriosis |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001065 |
Study accession | GCST000721 |
PubMed ID | 23472165 |
Journal | PLoS One |
Link | www.ncbi.nlm.nih.gov/pubmed/23472165 |
Study | Genome-wide association study link novel loci to endometriosis. |
Disease/Trait | Endometriosis |
Initial sample | 1,514 European ancestry casses, 12,660 European ancestry controls |
Replication sample | 505 European ancestry cases, 1,811 European ancestry controls |
Region | 1p36.12 |
Chromosome id | chr1;1;1;1;1 |
Chromosome position | 22096228;22164231;22113027;22123994;22159378 |
Reported gene | WNT4 |
Mapped gene | CDC42 - WNT4; LOC105376850; CDC42 - WNT4; WNT4; LOC105376845 - LOC105376850 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs10917151-A; rs7521902-A; rs4654783-T; rs2235529-T; rs16826658-G |
SNPs | rs10917151; rs7521902; rs4654783; rs2235529; rs16826658 |
Merged | 0 |
SNP id current | |
Context | upstream_gene_variant; intergenic_variant; downstream_gene_variant; intron_variant; intergenic_variant |
Intergenic | |
Allele frequency | 0.134 |
P value | 0.0000008 |
Pvalue mlog | 6.09691001300805 |
P value text | |
Or beta | 1.25 |
%95 Ci | [NR] |
Platform | Illumina [580699] |
CNV | N |
Mapped trait | endometriosis |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001065 |
Study accession | GCST001894 |