Human SNP ID | rs1403543 |
---|---|
Human chromosome | chrX |
Human SNP position | 116170939 |
Pig chromosome | chrX |
Pig SNP position | 109826554 |
PubMed ID | 21602797 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/21602797 |
Study | Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2. |
Disease/Trait | Cystic fibrosis severity |
Initial sample | 2,317 European ancestry cases, 177 cases |
Replication sample | 898 European ancestry sibling pair cases, 75 sibling pair cases |
Region | Xq23 |
Chromosome id | chrX |
Chromosome position | 116170939 |
Reported gene | AGTR2 |
Mapped gene | AGTR2 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 186 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs1403543-A |
SNPs | rs1403543 |
Merged | 0 |
SNP id current | 1403543 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.51 |
P value | 0.000002 |
Pvalue mlog | 5.69897000433601 |
P value text | |
Or beta | |
%95 Ci | |
Platform | Illumina [~ 2609000] (imputed) |
CNV | N |
Mapped trait | Cystic fibrosis |
Mapped trait URI | http://www.orpha.net/ORDO/Orphanet_586 |
Study accession | GCST001077 |