Human SNP ID | rs1042602 |
---|---|
Human chromosome | chr11 |
Human SNP position | 89178528 |
Pig chromosome | chr9 |
Pig SNP position | 25165392 |
PubMed ID | 17999355 |
---|---|
Journal | Am J Hum Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/17999355 |
Study | A genomewide association study of skin pigmentation in a South Asian population. |
Disease/Trait | Skin pigmentation |
Initial sample | 363 South Asian ancestry low maxL* individuals, 374 South Asian ancestry high maxL* individuals |
Replication sample | 116 South Asian ancestry low maxL* individuals, 115 South Asian ancestry high maxL* individuals |
Region | 11q14.3 |
Chromosome id | chr11 |
Chromosome position | 89178528 |
Reported gene | TYR |
Mapped gene | TYR |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 7299 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs1042602-C |
SNPs | rs1042602 |
Merged | 0 |
SNP id current | 1042602 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.84 |
P value | 0.0000000004 |
Pvalue mlog | 9.39794000867203 |
P value text | |
Or beta | 4.36 |
%95 Ci | [2.64-7.20] |
Platform | Perlegen [1502205] |
CNV | N |
Mapped trait | skin pigmentation |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0003784 |
Study accession | GCST000114 |
PubMed ID | 17952075 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/17952075 |
Study | Genetic determinants of hair, eye and skin pigmentation in Europeans. |
Disease/Trait | Freckles |
Initial sample | 2,986 individuals |
Replication sample | 3,932 individuals |
Region | 11q14.3 |
Chromosome id | chr11 |
Chromosome position | 89178528 |
Reported gene | TYR |
Mapped gene | TYR |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 7299 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs1042602-C |
SNPs | rs1042602 |
Merged | 0 |
SNP id current | 1042602 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.67 |
P value | 0.00000000002 |
Pvalue mlog | 10.698970004336 |
P value text | |
Or beta | 1.32 |
%95 Ci | [1.17-1.49] |
Platform | Illumina [317511] |
CNV | N |
Mapped trait | freckles |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0003963 |
Study accession | GCST000119 |