Human SNP ID | rs6430585 |
---|---|
Human chromosome | chr2 |
Human SNP position | 135749357 |
Pig chromosome | chr15 |
Pig SNP position | 18588431 |
PubMed ID | 21979947 |
---|---|
Journal | Hum Mol Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/21979947 |
Study | A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries. |
Disease/Trait | Corneal structure |
Initial sample | 222 European ancestry cases, 3,324 European ancestry controls |
Replication sample | 304 European ancestry cases, 518 European ancestry controls, 146 European ancestry cases and 161 European ancestry controls from 70 families |
Region | 2q21.3 |
Chromosome id | chr2 |
Chromosome position | 135749357 |
Reported gene | UBXD2 |
Mapped gene | UBXN4 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 23190 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs6430585-? |
SNPs | rs6430585 |
Merged | 0 |
SNP id current | 6430585 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 0.000001 |
Pvalue mlog | 6 |
P value text | |
Or beta | 1.39 |
%95 Ci | |
Platform | Illumina [~ 290000] |
CNV | N |
Mapped trait | Keratoconus |
Mapped trait URI | http://www.orpha.net/ORDO/Orphanet_156071 |
Study accession | GCST001261 |