Human SNP ID | rs1401999 |
---|---|
Human chromosome | chr3 |
Human SNP position | 183960554 |
Pig chromosome | chr13 |
Pig SNP position | 131336642 |
PubMed ID | 24603532 |
---|---|
Journal | PLoS Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/24603532 |
Study | ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma. |
Disease/Trait | Anterior chamber depth |
Initial sample | 1,752 Malay ancestry individuals, 1,860 Indian ancestry individuals, 872 Chinese ancestry individuals |
Replication sample | 824 Chinese ancestry individuals |
Region | 3q27.1 |
Chromosome id | chr3 |
Chromosome position | 183960554 |
Reported gene | HTR3D, HTR3C, ABCC5, PARL |
Mapped gene | ABCC5 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 10057 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs1401999-C |
SNPs | rs1401999 |
Merged | 0 |
SNP id current | 1401999 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.41 |
P value | 0.000000008 |
Pvalue mlog | 8.09691001300805 |
P value text | |
Or beta | 0.045 |
%95 Ci | [0.030-0.060] unit decrease |
Platform | Illumina [NR] |
CNV | N |
Mapped trait | anterior chamber depth measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005668 |
Study accession | GCST002383 |