SNP Detail For rs16891982
1.Mapping Information
Human SNP ID rs16891982
Human chromosome chr5
Human SNP position 33951588
Pig chromosome chr16
Pig SNP position 20726645
2.Annotation Information
PubMed ID17999355
JournalAm J Hum Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/17999355
StudyA genomewide association study of skin pigmentation in a South Asian population.
Disease/TraitSkin pigmentation
Initial sample363 South Asian ancestry low maxL* individuals, 374 South Asian ancestry high maxL* individuals
Replication sample116 South Asian ancestry low maxL* individuals, 115 South Asian ancestry high maxL* individuals
Region5p13.2
Chromosome idchr5
Chromosome position33951588
Reported geneSLC45A2
Mapped geneSLC45A2
Upstream gene id
Downstream gene id
SNP gene ids51151
Upstream gene distance
Downstream gene distance
SNP risk allelers16891982-C
SNPsrs16891982
Merged0
SNP id current16891982
Contextmissense_variant
Intergenic0
Allele frequency0.83
P value0.00000000003
Pvalue mlog10.5228787452803
P value text
Or beta4.86
%95 Ci[2.88-8.21]
PlatformPerlegen [1502205]
CNVN
Mapped traitskin pigmentation
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003784
Study accessionGCST000114
PubMed ID20585627
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20585627
StudyWeb-based, participant-driven studies yield novel genetic associations for common traits.
Disease/TraitHair color
Initial sample9,126 European ancestry individuals
Replication sampleNA
Region5p13.2
Chromosome idchr5
Chromosome position33951588
Reported geneSLC45A2
Mapped geneSLC45A2
Upstream gene id
Downstream gene id
SNP gene ids51151
Upstream gene distance
Downstream gene distance
SNP risk allelers16891982-C
SNPsrs16891982
Merged0
SNP id current16891982
Contextmissense_variant
Intergenic0
Allele frequency0.03
P value4E-20
Pvalue mlog19.397940008672
P value text(hair color)
Or beta1.1
%95 Ci[NR] unit increase
PlatformIllumina [535076]
CNVN
Mapped traithair color
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003924
Study accessionGCST000707
PubMed ID20585627
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20585627
StudyWeb-based, participant-driven studies yield novel genetic associations for common traits.
Disease/TraitEye color
Initial sample9,126 European ancestry individuals
Replication sampleNA
Region5p13.2
Chromosome idchr5
Chromosome position33951588
Reported geneSLC45A2
Mapped geneSLC45A2
Upstream gene id
Downstream gene id
SNP gene ids51151
Upstream gene distance
Downstream gene distance
SNP risk allelers16891982-C
SNPsrs16891982
Merged0
SNP id current16891982
Contextmissense_variant
Intergenic0
Allele frequency0.03
P value0.000000000001
Pvalue mlog12
P value text(eye color)
Or beta0.84
%95 Ci[NR] unit increase
PlatformIllumina [535076]
CNVN
Mapped traiteye color
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003949
Study accessionGCST000710
PubMed ID20585627
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20585627
StudyWeb-based, participant-driven studies yield novel genetic associations for common traits.
Disease/TraitHair color
Initial sample9,126 European ancestry individuals
Replication sampleNA
Region5p13.2
Chromosome idchr5
Chromosome position33951588
Reported geneNR
Mapped geneSLC45A2
Upstream gene id
Downstream gene id
SNP gene ids51151
Upstream gene distance
Downstream gene distance
SNP risk allelers16891982-?
SNPsrs16891982
Merged0
SNP id current16891982
Contextmissense_variant
Intergenic0
Allele frequencyNR
P value4E-20
Pvalue mlog19.397940008672
P value text(hair color)
Or beta
%95 Ci
PlatformIllumina [535076]
CNVN
Mapped traithair color
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003924
Study accessionGCST000707
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/TraitBlack vs. non-black hair color
Initial sample196 European ancestry black hair individuals, 6,895 European ancestry non-black hair individuals
Replication sampleNA
Region5p13.2
Chromosome idchr5
Chromosome position33951588
Reported geneSLC45A2
Mapped geneSLC45A2
Upstream gene id
Downstream gene id
SNP gene ids51151
Upstream gene distance
Downstream gene distance
SNP risk allelers16891982-?
SNPsrs16891982
Merged0
SNP id current16891982
Contextmissense_variant
Intergenic0
Allele frequency0.05
P value0.000001
Pvalue mlog6
P value text
Or beta4.9177
%95 Ci[4.28-5.56]
PlatformAffymetrix, Illumina, Perlegen [6473680] (imputed)
CNVN
Mapped traithair color
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003924
Study accessionGCST003019
PubMed ID25963972
JournalHum Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/25963972
StudyGenetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.
Disease/TraitSkin sensitivity to sun
Initial sample2,668 European ancestry individuals
Replication sampleNA
Region5p13.2
Chromosome idchr5
Chromosome position33951588
Reported geneSLC45A2
Mapped geneSLC45A2
Upstream gene id
Downstream gene id
SNP gene ids51151
Upstream gene distance
Downstream gene distance
SNP risk allelers16891982-C
SNPsrs16891982
Merged0
SNP id current16891982
Contextmissense_variant
Intergenic0
Allele frequency0.061
P value0.000007
Pvalue mlog5.15490195998574
P value text
Or beta0.31
%95 Ci[0.17-0.45] unit increase
PlatformIllumina [NR] (imputed)
CNVN
Mapped traitskin sensitivity to sun
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004795
Study accessionGCST002908