Human SNP ID | rs12741973 |
---|---|
Human chromosome | chr1 |
Human SNP position | 10578547 |
Pig chromosome | chr6 |
Pig SNP position | 64761018 |
PubMed ID | 20395239 |
---|---|
Journal | Hum Mol Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/20395239 |
Study | Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. |
Disease/Trait | Optic nerve measurement (rim area) |
Initial sample | 1,368 European ancestry twins from 666 families |
Replication sample | 848 European ancestry twins from 531 families |
Region | 1p36.22 |
Chromosome id | chr1 |
Chromosome position | 10578547 |
Reported gene | PEX14 |
Mapped gene | PEX14 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 5195 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs12741973-C |
SNPs | rs12741973 |
Merged | 0 |
SNP id current | 12741973 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 0.000007 |
Pvalue mlog | 5.15490195998574 |
P value text | |
Or beta | 0.167 |
%95 Ci | [0.087-0.247] unit decrease |
Platform | Illumina [~ 2740000] (imputed) |
CNV | N |
Mapped trait | optic disc size measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004832 |
Study accession | GCST000658 |