Human SNP ID | rs8000245 |
---|---|
Human chromosome | chr13 |
Human SNP position | 74156255 |
Pig chromosome | chr11 |
Pig SNP position | 51036603 |
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 | 13q22.1 |
Chromosome id | chr13 |
Chromosome position | 74156255 |
Reported gene | LOC730245 |
Mapped gene | KLF12 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 11278 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs8000245-C |
SNPs | rs8000245 |
Merged | 0 |
SNP id current | 8000245 |
Context | intergenic_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 0.000008 |
Pvalue mlog | 5.09691001300805 |
P value text | |
Or beta | 0.212 |
%95 Ci | [0.090-0.334] unit increase |
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 |