Human SNP ID | rs11712066 |
---|---|
Human chromosome | chr3 |
Human SNP position | 152112520 |
Pig chromosome | chr13 |
Pig SNP position | 100461265 |
PubMed ID | 22306654 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/22306654 |
Study | Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis. |
Disease/Trait | Infantile hypertrophic pyloric stenosis |
Initial sample | 1,001 European ancestry cases, 2,401 European ancestry controls |
Replication sample | 796 European ancestry cases, 876 European ancestry controls |
Region | 3q25.1 |
Chromosome id | chr3 |
Chromosome position | 152112520 |
Reported gene | MBNL1 |
Mapped gene | LOC105374161 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 105374161 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs11712066-A |
SNPs | rs11712066 |
Merged | 0 |
SNP id current | 11712066 |
Context | intergenic_variant |
Intergenic | 0 |
Allele frequency | 0.75 |
P value | 0.00000000000000002 |
Pvalue mlog | 16.698970004336 |
P value text | |
Or beta | 1.61 |
%95 Ci | [1.44-1.79] |
Platform | Illumina [523420] |
CNV | N |
Mapped trait | infantile hypertrophic pyloric stenosis |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004707 |
Study accession | GCST001399 |
PubMed ID | 23989729 |
Journal | JAMA |
Link | www.ncbi.nlm.nih.gov/pubmed/23989729 |
Study | Plasma lipids, genetic variants near APOA1, and the risk of infantile hypertrophic pyloric stenosis. |
Disease/Trait | Infantile hypertrophic pyloric stenosis |
Initial sample | 1,001 European ancestry cases, 2,371 European ancestry controls |
Replication sample | 925 European ancestry cases, 1,621 European ancestry controls, 738 cases, 697 controls |
Region | 3q25.1 |
Chromosome id | chr3 |
Chromosome position | 152112520 |
Reported gene | intergenic |
Mapped gene | LOC105374161 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 105374161 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs11712066-A |
SNPs | rs11712066 |
Merged | 0 |
SNP id current | 11712066 |
Context | intergenic_variant |
Intergenic | 0 |
Allele frequency | 0.7484 |
P value | 3E-21 |
Pvalue mlog | 20.5228787452803 |
P value text | |
Or beta | 1.55 |
%95 Ci | [1.42-1.70] |
Platform | Illumina [9737928] (imputed) |
CNV | N |
Mapped trait | infantile hypertrophic pyloric stenosis |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004707 |
Study accession | GCST002145 |