Human SNP ID | rs16879552 |
---|---|
Human chromosome | chr8 |
Human SNP position | 32553698 |
Pig chromosome | chr15 |
Pig SNP position | 60193368 |
PubMed ID | 19196962 |
---|---|
Journal | Proc Natl Acad Sci U S A |
Link | www.ncbi.nlm.nih.gov/pubmed/19196962 |
Study | Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung__s disease. |
Disease/Trait | Hirschsprung disease |
Initial sample | 181 Chinese ancestry cases, 346 Chinese ancestry controls |
Replication sample | 190 Chinese ancestry cases, 510 Chinese ancestry controls |
Region | 8p12 |
Chromosome id | chr8 |
Chromosome position | 32553698 |
Reported gene | NRG1 |
Mapped gene | NRG1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 3084 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs16879552-G |
SNPs | rs16879552 |
Merged | 0 |
SNP id current | 16879552 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.61 |
P value | 0.00000002 |
Pvalue mlog | 7.69897000433601 |
P value text | |
Or beta | 1.68 |
%95 Ci | [1.40-2.00] |
Platform | Affymetrix [293836] |
CNV | N |
Mapped trait | Hirschsprung disease |
Mapped trait URI | http://www.orpha.net/ORDO/Orphanet_388 |
Study accession | GCST000334 |