Human SNP ID | rs12821256 |
---|---|
Human chromosome | chr12 |
Human SNP position | 88934558 |
Pig chromosome | chr5 |
Pig SNP position | 98346805 |
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 | Blond vs. brown hair color |
Initial sample | 2,986 European ancestry individuals |
Replication sample | 3,932 European ancestry individuals |
Region | 12q21.33 |
Chromosome id | chr12 |
Chromosome position | 88934558 |
Reported gene | KITLG |
Mapped gene | LOC105369887 - LOC728084 |
Upstream gene id | 105369887 |
Downstream gene id | 728084 |
SNP gene ids | |
Upstream gene distance | 150273 |
Downstream gene distance | 76568 |
SNP risk allele | rs12821256-C |
SNPs | rs12821256 |
Merged | 0 |
SNP id current | 12821256 |
Context | regulatory_region_variant |
Intergenic | 1 |
Allele frequency | 0.14 |
P value | 4E-30 |
Pvalue mlog | 29.397940008672 |
P value text | |
Or beta | 2.32 |
%95 Ci | [1.86-2.92] |
Platform | Illumina [317511] |
CNV | N |
Mapped trait | hair color |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0003924 |
Study accession | GCST000118 |
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 | Hair color |
Initial sample | 7,070 European ancestry individuals |
Replication sample | 4,155 European ancestry individuals |
Region | 12q21.33 |
Chromosome id | chr12 |
Chromosome position | 88934558 |
Reported gene | KITLG |
Mapped gene | LOC105369887 - LOC728084 |
Upstream gene id | 105369887 |
Downstream gene id | 728084 |
SNP gene ids | |
Upstream gene distance | 150273 |
Downstream gene distance | 76568 |
SNP risk allele | rs12821256-C |
SNPs | rs12821256 |
Merged | 0 |
SNP id current | 12821256 |
Context | regulatory_region_variant |
Intergenic | 1 |
Allele frequency | NR |
P value | 7E-19 |
Pvalue mlog | 18.1549019599857 |
P value text | |
Or beta | 0.18 |
%95 Ci | [0.14-0.22] unit increase |
Platform | Affymetrix, Illumina [7588169] (imputed) |
CNV | N |
Mapped trait | hair color |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0003924 |
Study accession | GCST001932 |
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 | Blond vs non-blond hair color |
Initial sample | 2,888 European ancestry blond hair individuals, 4,203 European ancestry non-blond hair individuals |
Replication sample | NA |
Region | 12q21.33 |
Chromosome id | chr12 |
Chromosome position | 88934558 |
Reported gene | KITLG |
Mapped gene | LOC105369887 - LOC728084 |
Upstream gene id | 105369887 |
Downstream gene id | 728084 |
SNP gene ids | |
Upstream gene distance | 150273 |
Downstream gene distance | 76568 |
SNP risk allele | rs12821256-? |
SNPs | rs12821256 |
Merged | 0 |
SNP id current | 12821256 |
Context | regulatory_region_variant |
Intergenic | 1 |
Allele frequency | 0.872 |
P value | 0.0000000001 |
Pvalue mlog | 10 |
P value text | |
Or beta | 1.4892032 |
%95 Ci | [1.37-1.61] |
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 | GCST003023 |
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 | Brown vs. non-brown hair color |
Initial sample | 3,826 European ancestry brown hair individuals, 3,265 European ancestry non-brown hair individuals |
Replication sample | NA |
Region | 12q21.33 |
Chromosome id | chr12 |
Chromosome position | 88934558 |
Reported gene | KITLG |
Mapped gene | LOC105369887 - LOC728084 |
Upstream gene id | 105369887 |
Downstream gene id | 728084 |
SNP gene ids | |
Upstream gene distance | 150273 |
Downstream gene distance | 76568 |
SNP risk allele | rs12821256-? |
SNPs | rs12821256 |
Merged | 0 |
SNP id current | 12821256 |
Context | regulatory_region_variant |
Intergenic | 1 |
Allele frequency | 0.128 |
P value | 0.000000001 |
Pvalue mlog | 9 |
P value text | |
Or beta | 1.4366 |
%95 Ci | [1.32-1.55] |
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 | GCST003021 |
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 | Light vs. dark hair color |
Initial sample | 3,069 European ancestry light hair individuals, 4,022 European ancestry dark hair individuals |
Replication sample | NA |
Region | 12q21.33 |
Chromosome id | chr12 |
Chromosome position | 88934558 |
Reported gene | KITLG |
Mapped gene | LOC105369887 - LOC728084 |
Upstream gene id | 105369887 |
Downstream gene id | 728084 |
SNP gene ids | |
Upstream gene distance | 150273 |
Downstream gene distance | 76568 |
SNP risk allele | rs12821256-? |
SNPs | rs12821256 |
Merged | 0 |
SNP id current | 12821256 |
Context | regulatory_region_variant |
Intergenic | 1 |
Allele frequency | 0.128 |
P value | 0.0000000001 |
Pvalue mlog | 10 |
P value text | |
Or beta | 1.4829 |
%95 Ci | [1.36-1.60] |
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 | GCST003022 |