SNP Detail For rs12821256
1.Mapping Information
Human SNP ID rs12821256
Human chromosome chr12
Human SNP position 88934558
Pig chromosome chr5
Pig SNP position 98346805
2.Annotation Information
PubMed ID17952075
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/17952075
StudyGenetic determinants of hair, eye and skin pigmentation in Europeans.
Disease/TraitBlond vs. brown hair color
Initial sample2,986 European ancestry individuals
Replication sample3,932 European ancestry individuals
Region12q21.33
Chromosome idchr12
Chromosome position88934558
Reported geneKITLG
Mapped geneLOC105369887 - LOC728084
Upstream gene id105369887
Downstream gene id728084
SNP gene ids
Upstream gene distance150273
Downstream gene distance76568
SNP risk allelers12821256-C
SNPsrs12821256
Merged0
SNP id current12821256
Contextregulatory_region_variant
Intergenic1
Allele frequency0.14
P value4E-30
Pvalue mlog29.397940008672
P value text
Or beta2.32
%95 Ci[1.86-2.92]
PlatformIllumina [317511]
CNVN
Mapped traithair color
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003924
Study accessionGCST000118
PubMed ID23548203
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23548203
StudyGenome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
Disease/TraitHair color
Initial sample7,070 European ancestry individuals
Replication sample4,155 European ancestry individuals
Region12q21.33
Chromosome idchr12
Chromosome position88934558
Reported geneKITLG
Mapped geneLOC105369887 - LOC728084
Upstream gene id105369887
Downstream gene id728084
SNP gene ids
Upstream gene distance150273
Downstream gene distance76568
SNP risk allelers12821256-C
SNPsrs12821256
Merged0
SNP id current12821256
Contextregulatory_region_variant
Intergenic1
Allele frequencyNR
P value7E-19
Pvalue mlog18.1549019599857
P value text
Or beta0.18
%95 Ci[0.14-0.22] unit increase
PlatformAffymetrix, Illumina [7588169] (imputed)
CNVN
Mapped traithair color
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003924
Study accessionGCST001932
PubMed ID26184321
JournalGenes
Linkwww.ncbi.nlm.nih.gov/pubmed/26184321
StudyHeritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.
Disease/TraitBlond vs non-blond hair color
Initial sample2,888 European ancestry blond hair individuals, 4,203 European ancestry non-blond hair individuals
Replication sampleNA
Region12q21.33
Chromosome idchr12
Chromosome position88934558
Reported geneKITLG
Mapped geneLOC105369887 - LOC728084
Upstream gene id105369887
Downstream gene id728084
SNP gene ids
Upstream gene distance150273
Downstream gene distance76568
SNP risk allelers12821256-?
SNPsrs12821256
Merged0
SNP id current12821256
Contextregulatory_region_variant
Intergenic1
Allele frequency0.872
P value0.0000000001
Pvalue mlog10
P value text
Or beta1.4892032
%95 Ci[1.37-1.61]
PlatformAffymetrix, Illumina, Perlegen [6473680] (imputed)
CNVN
Mapped traithair color
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003924
Study accessionGCST003023
PubMed ID26184321
JournalGenes
Linkwww.ncbi.nlm.nih.gov/pubmed/26184321
StudyHeritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.
Disease/TraitBrown vs. non-brown hair color
Initial sample3,826 European ancestry brown hair individuals, 3,265 European ancestry non-brown hair individuals
Replication sampleNA
Region12q21.33
Chromosome idchr12
Chromosome position88934558
Reported geneKITLG
Mapped geneLOC105369887 - LOC728084
Upstream gene id105369887
Downstream gene id728084
SNP gene ids
Upstream gene distance150273
Downstream gene distance76568
SNP risk allelers12821256-?
SNPsrs12821256
Merged0
SNP id current12821256
Contextregulatory_region_variant
Intergenic1
Allele frequency0.128
P value0.000000001
Pvalue mlog9
P value text
Or beta1.4366
%95 Ci[1.32-1.55]
PlatformAffymetrix, Illumina, Perlegen [6473680] (imputed)
CNVN
Mapped traithair color
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003924
Study accessionGCST003021
PubMed ID26184321
JournalGenes
Linkwww.ncbi.nlm.nih.gov/pubmed/26184321
StudyHeritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.
Disease/TraitLight vs. dark hair color
Initial sample3,069 European ancestry light hair individuals, 4,022 European ancestry dark hair individuals
Replication sampleNA
Region12q21.33
Chromosome idchr12
Chromosome position88934558
Reported geneKITLG
Mapped geneLOC105369887 - LOC728084
Upstream gene id105369887
Downstream gene id728084
SNP gene ids
Upstream gene distance150273
Downstream gene distance76568
SNP risk allelers12821256-?
SNPsrs12821256
Merged0
SNP id current12821256
Contextregulatory_region_variant
Intergenic1
Allele frequency0.128
P value0.0000000001
Pvalue mlog10
P value text
Or beta1.4829
%95 Ci[1.36-1.60]
PlatformAffymetrix, Illumina, Perlegen [6473680] (imputed)
CNVN
Mapped traithair color
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003924
Study accessionGCST003022