Human SNP ID | rs16891982 |
---|---|
Human chromosome | chr5 |
Human SNP position | 33951588 |
Pig chromosome | chr16 |
Pig SNP position | 20726645 |
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 | 5p13.2 |
Chromosome id | chr5 |
Chromosome position | 33951588 |
Reported gene | SLC45A2 |
Mapped gene | SLC45A2 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 51151 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs16891982-C |
SNPs | rs16891982 |
Merged | 0 |
SNP id current | 16891982 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.83 |
P value | 0.00000000003 |
Pvalue mlog | 10.5228787452803 |
P value text | |
Or beta | 4.86 |
%95 Ci | [2.88-8.21] |
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 | 20585627 |
Journal | PLoS Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/20585627 |
Study | Web-based, participant-driven studies yield novel genetic associations for common traits. |
Disease/Trait | Hair color |
Initial sample | 9,126 European ancestry individuals |
Replication sample | NA |
Region | 5p13.2 |
Chromosome id | chr5 |
Chromosome position | 33951588 |
Reported gene | SLC45A2 |
Mapped gene | SLC45A2 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 51151 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs16891982-C |
SNPs | rs16891982 |
Merged | 0 |
SNP id current | 16891982 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.03 |
P value | 4E-20 |
Pvalue mlog | 19.397940008672 |
P value text | (hair color) |
Or beta | 1.1 |
%95 Ci | [NR] unit increase |
Platform | Illumina [535076] |
CNV | N |
Mapped trait | hair color |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0003924 |
Study accession | GCST000707 |
PubMed ID | 20585627 |
Journal | PLoS Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/20585627 |
Study | Web-based, participant-driven studies yield novel genetic associations for common traits. |
Disease/Trait | Eye color |
Initial sample | 9,126 European ancestry individuals |
Replication sample | NA |
Region | 5p13.2 |
Chromosome id | chr5 |
Chromosome position | 33951588 |
Reported gene | SLC45A2 |
Mapped gene | SLC45A2 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 51151 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs16891982-C |
SNPs | rs16891982 |
Merged | 0 |
SNP id current | 16891982 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.03 |
P value | 0.000000000001 |
Pvalue mlog | 12 |
P value text | (eye color) |
Or beta | 0.84 |
%95 Ci | [NR] unit increase |
Platform | Illumina [535076] |
CNV | N |
Mapped trait | eye color |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0003949 |
Study accession | GCST000710 |
PubMed ID | 20585627 |
Journal | PLoS Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/20585627 |
Study | Web-based, participant-driven studies yield novel genetic associations for common traits. |
Disease/Trait | Hair color |
Initial sample | 9,126 European ancestry individuals |
Replication sample | NA |
Region | 5p13.2 |
Chromosome id | chr5 |
Chromosome position | 33951588 |
Reported gene | NR |
Mapped gene | SLC45A2 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 51151 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs16891982-? |
SNPs | rs16891982 |
Merged | 0 |
SNP id current | 16891982 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 4E-20 |
Pvalue mlog | 19.397940008672 |
P value text | (hair color) |
Or beta | |
%95 Ci | |
Platform | Illumina [535076] |
CNV | N |
Mapped trait | hair color |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0003924 |
Study accession | GCST000707 |
PubMed ID | 26184321 |
Journal | Genes |
Link | www.ncbi.nlm.nih.gov/pubmed/26184321 |
Study | Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample. |
Disease/Trait | Black vs. non-black hair color |
Initial sample | 196 European ancestry black hair individuals, 6,895 European ancestry non-black hair individuals |
Replication sample | NA |
Region | 5p13.2 |
Chromosome id | chr5 |
Chromosome position | 33951588 |
Reported gene | SLC45A2 |
Mapped gene | SLC45A2 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 51151 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs16891982-? |
SNPs | rs16891982 |
Merged | 0 |
SNP id current | 16891982 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.05 |
P value | 0.000001 |
Pvalue mlog | 6 |
P value text | |
Or beta | 4.9177 |
%95 Ci | [4.28-5.56] |
Platform | Affymetrix, Illumina, Perlegen [6473680] (imputed) |
CNV | N |
Mapped trait | hair color |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0003924 |
Study accession | GCST003019 |
PubMed ID | 25963972 |
Journal | Hum Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/25963972 |
Study | Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up. |
Disease/Trait | Skin sensitivity to sun |
Initial sample | 2,668 European ancestry individuals |
Replication sample | NA |
Region | 5p13.2 |
Chromosome id | chr5 |
Chromosome position | 33951588 |
Reported gene | SLC45A2 |
Mapped gene | SLC45A2 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 51151 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs16891982-C |
SNPs | rs16891982 |
Merged | 0 |
SNP id current | 16891982 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.061 |
P value | 0.000007 |
Pvalue mlog | 5.15490195998574 |
P value text | |
Or beta | 0.31 |
%95 Ci | [0.17-0.45] unit increase |
Platform | Illumina [NR] (imputed) |
CNV | N |
Mapped trait | skin sensitivity to sun |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004795 |
Study accession | GCST002908 |