Human SNP ID | rs1208285 |
---|---|
Human chromosome | chr6 |
Human SNP position | 133837662 |
Pig chromosome | chr1 |
Pig SNP position | 33528101 |
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 | 6q23.2 |
Chromosome id | chr6 |
Chromosome position | 133837662 |
Reported gene | NR |
Mapped gene | TARID, LINC01312 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 100507308, 154089 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs1208285-C |
SNPs | rs1208285 |
Merged | 0 |
SNP id current | 1208285 |
Context | non_coding_transcript_exon_variant |
Intergenic | 0 |
Allele frequency | 0.39 |
P value | 0.0000006 |
Pvalue mlog | 6.22184874961635 |
P value text | |
Or beta | 1.25 |
%95 Ci | [1.14-1.36] |
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 |