Human SNP ID | rs6074578 |
---|---|
Human chromosome | chr20 |
Human SNP position | 211156 |
Pig chromosome | chr17 |
Pig SNP position | 39713409 |
PubMed ID | 25310821 |
---|---|
Journal | PLoS One |
Link | www.ncbi.nlm.nih.gov/pubmed/25310821 |
Study | A genome-wide association study identifies potential susceptibility Loci for hirschsprung disease. |
Disease/Trait | Hirschsprung disease |
Initial sample | 123 Korean ancestry cases, 432 Korean ancestry controls |
Replication sample | NA |
Region | 20p13 |
Chromosome id | chr20 |
Chromosome position | 211156 |
Reported gene | DEFB129 |
Mapped gene | DEFB128 - DEFB129 |
Upstream gene id | 245939 |
Downstream gene id | 140881 |
SNP gene ids | |
Upstream gene distance | 21475 |
Downstream gene distance | 16102 |
SNP risk allele | rs6074578-? |
SNPs | rs6074578 |
Merged | 0 |
SNP id current | 6074578 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | NR |
P value | 0.000004 |
Pvalue mlog | 5.39794000867203 |
P value text | (Conditioned on rs2435357, rs1800860, rs7078220 and rs16879552) |
Or beta | |
%95 Ci | |
Platform | Illumina [757260] |
CNV | N |
Mapped trait | Hirschsprung disease |
Mapped trait URI | http://www.orpha.net/ORDO/Orphanet_388 |
Study accession | GCST002658 |