Human SNP ID | rs1800813 |
---|---|
Human chromosome | chr4 |
Human SNP position | 54228300 |
Pig chromosome | chr8 |
Pig SNP position | 43007525 |
PubMed ID | 24963161 |
---|---|
Journal | Hum Mol Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/24963161 |
Study | CMPK1 and RBP3 are associated with corneal curvature in Asian populations. |
Disease/Trait | Corneal curvature |
Initial sample | 3,178 Chinese ancestry individuals, 2,138 Malay ancestry individuals, 2,124 Asian Indian ancestry individuals |
Replication sample | 2,473 Chinese ancestry individuals, 2,747 Japanese ancestry individuals |
Region | 4q12 |
Chromosome id | chr4 |
Chromosome position | 54228300 |
Reported gene | PDGFRA |
Mapped gene | GSX2 - PDGFRA |
Upstream gene id | 170825 |
Downstream gene id | 5156 |
SNP gene ids | |
Upstream gene distance | 126345 |
Downstream gene distance | 797 |
SNP risk allele | rs1800813-G |
SNPs | rs1800813 |
Merged | 0 |
SNP id current | 1800813 |
Context | intron_variant |
Intergenic | 1 |
Allele frequency | 0.77 |
P value | 0.000000008 |
Pvalue mlog | 8.09691001300805 |
P value text | |
Or beta | 0.1 |
%95 Ci | [0.061-0.139] unit increase |
Platform | Illumina [~ 7000000] (imputed) |
CNV | N |
Mapped trait | corneal topography |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004345 |
Study accession | GCST002502 |