SNP Detail For rs1042602
1.Mapping Information
Human SNP ID rs1042602
Human chromosome chr11
Human SNP position 89178528
Pig chromosome chr9
Pig SNP position 25165392
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
Region11q14.3
Chromosome idchr11
Chromosome position89178528
Reported geneTYR
Mapped geneTYR
Upstream gene id
Downstream gene id
SNP gene ids7299
Upstream gene distance
Downstream gene distance
SNP risk allelers1042602-C
SNPsrs1042602
Merged0
SNP id current1042602
Contextmissense_variant
Intergenic0
Allele frequency0.84
P value0.0000000004
Pvalue mlog9.39794000867203
P value text
Or beta4.36
%95 Ci[2.64-7.20]
PlatformPerlegen [1502205]
CNVN
Mapped traitskin pigmentation
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003784
Study accessionGCST000114
PubMed ID17952075
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/17952075
StudyGenetic determinants of hair, eye and skin pigmentation in Europeans.
Disease/TraitFreckles
Initial sample2,986 individuals
Replication sample3,932 individuals
Region11q14.3
Chromosome idchr11
Chromosome position89178528
Reported geneTYR
Mapped geneTYR
Upstream gene id
Downstream gene id
SNP gene ids7299
Upstream gene distance
Downstream gene distance
SNP risk allelers1042602-C
SNPsrs1042602
Merged0
SNP id current1042602
Contextmissense_variant
Intergenic0
Allele frequency0.67
P value0.00000000002
Pvalue mlog10.698970004336
P value text
Or beta1.32
%95 Ci[1.17-1.49]
PlatformIllumina [317511]
CNVN
Mapped traitfreckles
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003963
Study accessionGCST000119