Human SNP ID | rs12296937 |
---|---|
Human chromosome | chr12 |
Human SNP position | 81100473 |
Pig chromosome | chr5 |
Pig SNP position | 105346125 |
PubMed ID | 25352737 |
---|---|
Journal | Mol Vis |
Link | www.ncbi.nlm.nih.gov/pubmed/25352737 |
Study | Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci. |
Disease/Trait | Age-related cataracts (age at onset) |
Initial sample | 5,503 European, Black, and other ancestry cases age 50 and older |
Replication sample | NA |
Region | 12q21.31 |
Chromosome id | chr12 |
Chromosome position | 81100473 |
Reported gene | LIN7A, ACSS3, PPFIA2 |
Mapped gene | ACSS3 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 79611 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs12296937-G |
SNPs | rs12296937 |
Merged | 0 |
SNP id current | 12296937 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.0267 |
P value | 0.0000006 |
Pvalue mlog | 6.22184874961635 |
P value text | |
Or beta | 1.08 |
%95 Ci | [NR] unit decrease |
Platform | Illumina [530101] |
CNV | N |
Mapped trait | age at onset, age-related cataract |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004847, http://purl.obolibrary.org/obo/HP_0011141 |
Study accession | GCST002618 |