Human SNP ID | rs1408799 |
---|---|
Human chromosome | chr9 |
Human SNP position | 12672097 |
Pig chromosome | chr1 |
Pig SNP position | 233705185 |
PubMed ID | 18488028 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/18488028 |
Study | Two newly identified genetic determinants of pigmentation in Europeans. |
Disease/Trait | Blue vs. green eyes |
Initial sample | 5,130 individuals |
Replication sample | 3,330 individuals |
Region | 9p23 |
Chromosome id | chr9 |
Chromosome position | 12672097 |
Reported gene | TYRP1 |
Mapped gene | LOC105375976 - TYRP1 |
Upstream gene id | 105375976 |
Downstream gene id | 7306 |
SNP gene ids | |
Upstream gene distance | 512982 |
Downstream gene distance | 21289 |
SNP risk allele | rs1408799-C |
SNPs | rs1408799 |
Merged | 0 |
SNP id current | 1408799 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.75 |
P value | 0.00000000000000006 |
Pvalue mlog | 16.2218487496163 |
P value text | |
Or beta | 1.4 |
%95 Ci | [1.25-1.57] |
Platform | Illumina [316515] |
CNV | N |
Mapped trait | eye color |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0003949 |
Study accession | GCST000192 |
PubMed ID | 23548203 |
Journal | Hum Mol Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/23548203 |
Study | Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. |
Disease/Trait | Eye color |
Initial sample | 3871 European ancestry individuals |
Replication sample | 2,496 European ancestry individuals |
Region | 9p23 |
Chromosome id | chr9 |
Chromosome position | 12672097 |
Reported gene | TYRP1 |
Mapped gene | LOC105375976 - TYRP1 |
Upstream gene id | 105375976 |
Downstream gene id | 7306 |
SNP gene ids | |
Upstream gene distance | 512982 |
Downstream gene distance | 21289 |
SNP risk allele | rs1408799-C |
SNPs | rs1408799 |
Merged | 0 |
SNP id current | 1408799 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | NR |
P value | 0.0000005 |
Pvalue mlog | 6.30102999566398 |
P value text | (Blue eye color) |
Or beta | 0.27 |
%95 Ci | [0.17-0.37] unit decrease |
Platform | Affymetrix, Illumina [2469762] (imputed) |
CNV | N |
Mapped trait | eye color |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0003949 |
Study accession | GCST001929 |