SNP Detail For rs887829
1.Mapping Information
Human SNP ID rs887829
Human chromosome chr2
Human SNP position 233759924
Pig chromosome chr15
Pig SNP position 148148238
2.Annotation Information
PubMed ID22085899
JournalEur J Hum Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/22085899
StudyUGT1A1 is a major locus influencing bilirubin levels in African Americans.
Disease/TraitBilirubin levels
Initial sample619 African American individuals
Replication sampleNA
Region2q37.1
Chromosome idchr2
Chromosome position233759924
Reported geneUGT1A1
Mapped geneUGT1A9, UGT1A7, UGT1A8, UGT1A10, UGT1A3, UGT1A5, UGT1A4, UGT1A6
Upstream gene id
Downstream gene id
SNP gene ids54600, 54577, 54576, 54575, 54659, 54579, 54657, 54578
Upstream gene distance
Downstream gene distance
SNP risk allelers887829-T
SNPsrs887829
Merged0
SNP id current887829
Contextintron_variant
Intergenic0
Allele frequency0.45
P value2E-22
Pvalue mlog21.698970004336
P value text
Or beta0.226
%95 Ci[0.183-0.270] unit increase
PlatformAffymetrix [808465]
CNVN
Mapped traitbilirubin measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004570
Study accessionGCST001324
PubMed ID19419973
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19419973
StudyCommon variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.
Disease/TraitBilirubin levels
Initial sample4,300 Sardinian individuals
Replication sample1,860 Sardinian individuals, 832 Old Order Amish individuals
Region2q37.1
Chromosome idchr2
Chromosome position233759924
Reported geneUGT1A1
Mapped geneUGT1A9, UGT1A7, UGT1A8, UGT1A10, UGT1A3, UGT1A5, UGT1A4, UGT1A6
Upstream gene id
Downstream gene id
SNP gene ids54600, 54577, 54576, 54575, 54659, 54579, 54657, 54578
Upstream gene distance
Downstream gene distance
SNP risk allelers887829-T
SNPsrs887829
Merged0
SNP id current887829
Contextintron_variant
Intergenic0
Allele frequency0.3
P value1E-69
Pvalue mlog69
P value text
Or beta0.57
%95 Ci[0.50-0.63] s.d. decrease
PlatformAffymetrix [362129]
CNVN
Mapped traitbilirubin measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004570
Study accessionGCST000388
PubMed ID21886157
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/21886157
StudyHuman metabolic individuality in biomedical and pharmaceutical research.
Disease/TraitMetabolic traits
Initial sample2,820 European ancestry individuals
Replication sampleNA
Region2q37.1
Chromosome idchr2
Chromosome position233759924
Reported geneUGT1A
Mapped geneUGT1A9, UGT1A7, UGT1A8, UGT1A10, UGT1A3, UGT1A5, UGT1A4, UGT1A6
Upstream gene id
Downstream gene id
SNP gene ids54600, 54577, 54576, 54575, 54659, 54579, 54657, 54578
Upstream gene distance
Downstream gene distance
SNP risk allelers887829-T
SNPsrs887829
Merged0
SNP id current887829
Contextintron_variant
Intergenic0
Allele frequency0.337
P value3E-74
Pvalue mlog73.5228787452803
P value text(SM-4 + 74 other traits)
Or beta0.293
%95 Ci[NR] unit increase
PlatformAffymetrix, Illumina [534665]
CNVN
Mapped traitmetabolite measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004725
Study accessionGCST001217
PubMed ID22558097
JournalPLoS One
Linkwww.ncbi.nlm.nih.gov/pubmed/22558097
StudyA genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia.
Disease/TraitCholelithiasis-related traits in sickle cell anemia
Initial sample905 African American cases
Replication sample2,152 African American cases
Region2q37.1
Chromosome idchr2
Chromosome position233759924
Reported geneUGT1A1, UGT1A10
Mapped geneUGT1A9, UGT1A7, UGT1A8, UGT1A10, UGT1A3, UGT1A5, UGT1A4, UGT1A6
Upstream gene id
Downstream gene id
SNP gene ids54600, 54577, 54576, 54575, 54659, 54579, 54657, 54578
Upstream gene distance
Downstream gene distance
SNP risk allelers887829-A
SNPsrs887829
Merged0
SNP id current887829
Contextintron_variant
Intergenic0
Allele frequency0.45
P value5E-25
Pvalue mlog24.3010299956639
P value text
Or beta0.19
%95 Ci[NR] unit increase
PlatformIllumina [569615]
CNVN
Mapped traitSickle cell anemia, cholelithiasis, bilirubin measurement
Mapped trait URIhttp://www.orpha.net/ORDO/Orphanet_232, http://www.ebi.ac.uk/efo/EFO_0004799, http://www.ebi.ac.uk/efo/EFO_0004570
Study accessionGCST001497
PubMed ID23642732
JournalAtherosclerosis
Linkwww.ncbi.nlm.nih.gov/pubmed/23642732
StudyAssociation of SNPs in the UGT1A gene cluster with total bilirubin and mortality in the Diabetes Heart Study.
Disease/TraitBilirubin levels
Initial sample1,180 European ancestry individuals from ~475 families
Replication sample
Region2q37.1
Chromosome idchr2
Chromosome position233759924
Reported geneUGT1A
Mapped geneUGT1A9, UGT1A7, UGT1A8, UGT1A10, UGT1A3, UGT1A5, UGT1A4, UGT1A6
Upstream gene id
Downstream gene id
SNP gene ids54600, 54577, 54576, 54575, 54659, 54579, 54657, 54578
Upstream gene distance
Downstream gene distance
SNP risk allelers887829-T
SNPsrs887829
Merged0
SNP id current887829
Contextintron_variant
Intergenic0
Allele frequency0.312
P value9E-20
Pvalue mlog19.0457574905606
P value text
Or beta
%95 Ci
PlatformAffymetrix, Illumina [371951]
CNVN
Mapped traitbilirubin measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004570
Study accessionGCST001976
PubMed ID24625756
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24625756
StudyGenetic determinants influencing human serum metabolome among African Americans.
Disease/TraitSerum metabolite levels
Initial sample1,260 African American individuals
Replication sampleNA
Region2q37.1
Chromosome idchr2
Chromosome position233759924
Reported geneUGT1A
Mapped geneUGT1A9, UGT1A7, UGT1A8, UGT1A10, UGT1A3, UGT1A5, UGT1A4, UGT1A6
Upstream gene id
Downstream gene id
SNP gene ids54600, 54577, 54576, 54575, 54659, 54579, 54657, 54578
Upstream gene distance
Downstream gene distance
SNP risk allelers887829-T
SNPsrs887829
Merged0
SNP id current887829
Contextintron_variant
Intergenic0
Allele frequency0.44
P value0.00000000000000001
Pvalue mlog17
P value text(Bilirubin (E,E))
Or beta0.32
%95 Ci[NR] unit increase
PlatformAffymetrix [2341704] (imputed)
CNVN
Mapped traitserum metabolite measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005653
Study accessionGCST002388
PubMed ID24625756
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24625756
StudyGenetic determinants influencing human serum metabolome among African Americans.
Disease/TraitSerum metabolite levels
Initial sample1,260 African American individuals
Replication sampleNA
Region2q37.1
Chromosome idchr2
Chromosome position233759924
Reported geneUGT1A
Mapped geneUGT1A9, UGT1A7, UGT1A8, UGT1A10, UGT1A3, UGT1A5, UGT1A4, UGT1A6
Upstream gene id
Downstream gene id
SNP gene ids54600, 54577, 54576, 54575, 54659, 54579, 54657, 54578
Upstream gene distance
Downstream gene distance
SNP risk allelers887829-T
SNPsrs887829
Merged0
SNP id current887829
Contextintron_variant
Intergenic0
Allele frequency0.44
P value0.0000000000006
Pvalue mlog12.2218487496163
P value text(Bilirubin (Z,Z))
Or beta0.34
%95 Ci[NR] unit increase
PlatformAffymetrix [2341704] (imputed)
CNVN
Mapped traitserum metabolite measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005653
Study accessionGCST002388
PubMed ID24625756
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24625756
StudyGenetic determinants influencing human serum metabolome among African Americans.
Disease/TraitSerum metabolite levels
Initial sample1,260 African American individuals
Replication sampleNA
Region2q37.1
Chromosome idchr2
Chromosome position233759924
Reported geneUGT1A
Mapped geneUGT1A9, UGT1A7, UGT1A8, UGT1A10, UGT1A3, UGT1A5, UGT1A4, UGT1A6
Upstream gene id
Downstream gene id
SNP gene ids54600, 54577, 54576, 54575, 54659, 54579, 54657, 54578
Upstream gene distance
Downstream gene distance
SNP risk allelers887829-T
SNPsrs887829
Merged0
SNP id current887829
Contextintron_variant
Intergenic0
Allele frequency0.44
P value8E-23
Pvalue mlog22.096910013008
P value text(Biliverdin)
Or beta0.32
%95 Ci[NR] unit increase
PlatformAffymetrix [2341704] (imputed)
CNVN
Mapped traitserum metabolite measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005653
Study accessionGCST002388
PubMed ID24816252
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24816252
StudyAn atlas of genetic influences on human blood metabolites.
Disease/TraitBlood metabolite levels
Initial sample7,824 European ancestry individuals
Replication sampleNA
Region2q37.1
Chromosome idchr2
Chromosome position233759924
Reported geneUGT1A1
Mapped geneUGT1A9, UGT1A7, UGT1A8, UGT1A10, UGT1A3, UGT1A5, UGT1A4, UGT1A6
Upstream gene id
Downstream gene id
SNP gene ids54600, 54577, 54576, 54575, 54659, 54579, 54657, 54578
Upstream gene distance
Downstream gene distance
SNP risk allelers887829-T
SNPsrs887829
Merged0
SNP id current887829
Contextintron_variant
Intergenic0
Allele frequency0.34
P value3E-168
Pvalue mlog167.52287874528
P value text(biliverdin)
Or beta0.113
%95 Ci[0.11-0.12] unit increase
PlatformAffymetrix, Illumina [2100000] (imputed)
CNVN
Mapped traitblood metabolite measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005664
Study accessionGCST002443
PubMed ID24816252
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24816252
StudyAn atlas of genetic influences on human blood metabolites.
Disease/TraitBlood metabolite levels
Initial sample7,824 European ancestry individuals
Replication sampleNA
Region2q37.1
Chromosome idchr2
Chromosome position233759924
Reported geneUGT1A1
Mapped geneUGT1A9, UGT1A7, UGT1A8, UGT1A10, UGT1A3, UGT1A5, UGT1A4, UGT1A6
Upstream gene id
Downstream gene id
SNP gene ids54600, 54577, 54576, 54575, 54659, 54579, 54657, 54578
Upstream gene distance
Downstream gene distance
SNP risk allelers887829-T
SNPsrs887829
Merged0
SNP id current887829
Contextintron_variant
Intergenic0
Allele frequency0.33
P value2E-152
Pvalue mlog151.698970004336
P value text(bilirubin (Z,Z))
Or beta0.168
%95 Ci[0.16-0.18] unit increase
PlatformAffymetrix, Illumina [2100000] (imputed)
CNVN
Mapped traitblood metabolite measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005664
Study accessionGCST002443
PubMed ID24816252
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24816252
StudyAn atlas of genetic influences on human blood metabolites.
Disease/TraitBlood metabolite levels
Initial sample7,824 European ancestry individuals
Replication sampleNA
Region2q37.1
Chromosome idchr2
Chromosome position233759924
Reported geneUGT1A1
Mapped geneUGT1A9, UGT1A7, UGT1A8, UGT1A10, UGT1A3, UGT1A5, UGT1A4, UGT1A6
Upstream gene id
Downstream gene id
SNP gene ids54600, 54577, 54576, 54575, 54659, 54579, 54657, 54578
Upstream gene distance
Downstream gene distance
SNP risk allelers887829-T
SNPsrs887829
Merged0
SNP id current887829
Contextintron_variant
Intergenic0
Allele frequency0.33
P value2E-140
Pvalue mlog139.698970004336
P value text(X-11530)
Or beta0.112
%95 Ci[0.1-0.12] unit increase
PlatformAffymetrix, Illumina [2100000] (imputed)
CNVN
Mapped traitblood metabolite measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005664
Study accessionGCST002443
PubMed ID24816252
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24816252
StudyAn atlas of genetic influences on human blood metabolites.
Disease/TraitBlood metabolite levels
Initial sample7,824 European ancestry individuals
Replication sampleNA
Region2q37.1
Chromosome idchr2
Chromosome position233759924
Reported geneUGT1A1
Mapped geneUGT1A9, UGT1A7, UGT1A8, UGT1A10, UGT1A3, UGT1A5, UGT1A4, UGT1A6
Upstream gene id
Downstream gene id
SNP gene ids54600, 54577, 54576, 54575, 54659, 54579, 54657, 54578
Upstream gene distance
Downstream gene distance
SNP risk allelers887829-T
SNPsrs887829
Merged0
SNP id current887829
Contextintron_variant
Intergenic0
Allele frequency0.33
P value3E-114
Pvalue mlog113.52287874528
P value text(X-11793--oxidized bilirubin)
Or beta0.093
%95 Ci[0.085-0.101] unit increase
PlatformAffymetrix, Illumina [2100000] (imputed)
CNVN
Mapped traitblood metabolite measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005664
Study accessionGCST002443
PubMed ID24816252
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24816252
StudyAn atlas of genetic influences on human blood metabolites.
Disease/TraitBlood metabolite levels
Initial sample7,824 European ancestry individuals
Replication sampleNA
Region2q37.1
Chromosome idchr2
Chromosome position233759924
Reported geneUGT1A1
Mapped geneUGT1A9, UGT1A7, UGT1A8, UGT1A10, UGT1A3, UGT1A5, UGT1A4, UGT1A6
Upstream gene id
Downstream gene id
SNP gene ids54600, 54577, 54576, 54575, 54659, 54579, 54657, 54578
Upstream gene distance
Downstream gene distance
SNP risk allelers887829-T
SNPsrs887829
Merged0
SNP id current887829
Contextintron_variant
Intergenic0
Allele frequency0.33
P value4E-95
Pvalue mlog94.397940008672
P value text(bilirubin (E,E))
Or beta0.128
%95 Ci[0.12-0.14] unit increase
PlatformAffymetrix, Illumina [2100000] (imputed)
CNVN
Mapped traitblood metabolite measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005664
Study accessionGCST002443
PubMed ID24816252
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24816252
StudyAn atlas of genetic influences on human blood metabolites.
Disease/TraitBlood metabolite levels
Initial sample7,824 European ancestry individuals
Replication sampleNA
Region2q37.1
Chromosome idchr2
Chromosome position233759924
Reported geneUGT1A1
Mapped geneUGT1A9, UGT1A7, UGT1A8, UGT1A10, UGT1A3, UGT1A5, UGT1A4, UGT1A6
Upstream gene id
Downstream gene id
SNP gene ids54600, 54577, 54576, 54575, 54659, 54579, 54657, 54578
Upstream gene distance
Downstream gene distance
SNP risk allelers887829-T
SNPsrs887829
Merged0
SNP id current887829
Contextintron_variant
Intergenic0
Allele frequency0.32
P value2E-56
Pvalue mlog55.698970004336
P value text(bilirubin (E,Z or Z,E))
Or beta0.081
%95 Ci[0.071-0.091] unit increase
PlatformAffymetrix, Illumina [2100000] (imputed)
CNVN
Mapped traitblood metabolite measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005664
Study accessionGCST002443
PubMed ID23281178
JournalHum Mutat
Linkwww.ncbi.nlm.nih.gov/pubmed/23281178
StudyA genome-wide assessment of variability in human serum metabolism.
Disease/TraitMetabolite levels
Initial sample214 European ancestry prostate cancer cases, 188 European ancestry controls
Replication sample489 European ancestry prostate cancer cases
Region2q37.1
Chromosome idchr2
Chromosome position233759924
Reported geneUGT1A8
Mapped geneUGT1A9, UGT1A7, UGT1A8, UGT1A10, UGT1A3, UGT1A5, UGT1A4, UGT1A6
Upstream gene id
Downstream gene id
SNP gene ids54600, 54577, 54576, 54575, 54659, 54579, 54657, 54578
Upstream gene distance
Downstream gene distance
SNP risk allelers887829-T
SNPsrs887829
Merged0
SNP id current887829
Contextintron_variant
Intergenic0
Allele frequencyNR
P value9E-25
Pvalue mlog24.0457574905606
P value text(Bilirubin)
Or beta
%95 Ci
PlatformAffymetrix [333722]
CNVN
Mapped traitmetabolite measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004725
Study accessionGCST001882
PubMed ID25884002
JournalOpen Forum Infect Dis
Linkwww.ncbi.nlm.nih.gov/pubmed/25884002
StudyPhenome-wide Association Study Relating Pretreatment Laboratory Parameters With Human Genetic Variants in AIDS Clinical Trials Group Protocols.
Disease/TraitTotal bilirubin levels in HIV-1 infection
Initial sample2,547 individuals
Replication sampleNA
Region2q37.1
Chromosome idchr2
Chromosome position233759924
Reported geneUGT1A7, UGT1A6, UGT1A4, UGT1A, UGT1A9, UGT1A5, UGT1A3, UGT1A10, UGT1A8, UGT, LOC100286922, UGT1A1
Mapped geneUGT1A9, UGT1A7, UGT1A8, UGT1A10, UGT1A3, UGT1A5, UGT1A4, UGT1A6
Upstream gene id
Downstream gene id
SNP gene ids54600, 54577, 54576, 54575, 54659, 54579, 54657, 54578
Upstream gene distance
Downstream gene distance
SNP risk allelers887829-T
SNPsrs887829
Merged0
SNP id current887829
Contextintron_variant
Intergenic0
Allele frequency0.3656
P value7E-31
Pvalue mlog30.1549019599857
P value text
Or beta0.11449965
%95 Ci[NR] unit increase
PlatformIllumina [5954294] (imputed)
CNVN
Mapped traitHIV-1 infection, bilirubin measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000180, http://www.ebi.ac.uk/efo/EFO_0004570
Study accessionGCST002745