Human SNP ID | rs2307121 |
---|---|
Human chromosome | chr5 |
Human SNP position | 65329685 |
Pig chromosome | chr16 |
Pig SNP position | 47180970 |
PubMed ID | 23291589 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/23291589 |
Study | Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. |
Disease/Trait | Corneal structure |
Initial sample | 13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals |
Replication sample | NA |
Region | 5q12.3 |
Chromosome id | chr5 |
Chromosome position | 65329685 |
Reported gene | ADAMTS6 |
Mapped gene | ADAMTS6 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 11174 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2307121-T |
SNPs | rs2307121 |
Merged | 0 |
SNP id current | 2307121 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.34 |
P value | 0.00000000006 |
Pvalue mlog | 10.2218487496163 |
P value text | |
Or beta | 0.09 |
%95 Ci | [0.07-0.11] unit increase |
Platform | Affymetrix, Illumina [~ 1000000] (imputed) |
CNV | N |
Mapped trait | corneal topography |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004345 |
Study accession | GCST001806 |