Human SNP ID | rs887829 |
---|---|
Human chromosome | chr2 |
Human SNP position | 233759924 |
Pig chromosome | chr15 |
Pig SNP position | 148148238 |
PubMed ID | 22085899 |
---|---|
Journal | Eur J Hum Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/22085899 |
Study | UGT1A1 is a major locus influencing bilirubin levels in African Americans. |
Disease/Trait | Bilirubin levels |
Initial sample | 619 African American individuals |
Replication sample | NA |
Region | 2q37.1 |
Chromosome id | chr2 |
Chromosome position | 233759924 |
Reported gene | UGT1A1 |
Mapped gene | UGT1A9, UGT1A7, UGT1A8, UGT1A10, UGT1A3, UGT1A5, UGT1A4, UGT1A6 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 54600, 54577, 54576, 54575, 54659, 54579, 54657, 54578 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs887829-T |
SNPs | rs887829 |
Merged | 0 |
SNP id current | 887829 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.45 |
P value | 2E-22 |
Pvalue mlog | 21.698970004336 |
P value text | |
Or beta | 0.226 |
%95 Ci | [0.183-0.270] unit increase |
Platform | Affymetrix [808465] |
CNV | N |
Mapped trait | bilirubin measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004570 |
Study accession | GCST001324 |
PubMed ID | 19419973 |
Journal | Hum Mol Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/19419973 |
Study | Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia. |
Disease/Trait | Bilirubin levels |
Initial sample | 4,300 Sardinian individuals |
Replication sample | 1,860 Sardinian individuals, 832 Old Order Amish individuals |
Region | 2q37.1 |
Chromosome id | chr2 |
Chromosome position | 233759924 |
Reported gene | UGT1A1 |
Mapped gene | UGT1A9, UGT1A7, UGT1A8, UGT1A10, UGT1A3, UGT1A5, UGT1A4, UGT1A6 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 54600, 54577, 54576, 54575, 54659, 54579, 54657, 54578 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs887829-T |
SNPs | rs887829 |
Merged | 0 |
SNP id current | 887829 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.3 |
P value | 1E-69 |
Pvalue mlog | 69 |
P value text | |
Or beta | 0.57 |
%95 Ci | [0.50-0.63] s.d. decrease |
Platform | Affymetrix [362129] |
CNV | N |
Mapped trait | bilirubin measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004570 |
Study accession | GCST000388 |
PubMed ID | 21886157 |
Journal | Nature |
Link | www.ncbi.nlm.nih.gov/pubmed/21886157 |
Study | Human metabolic individuality in biomedical and pharmaceutical research. |
Disease/Trait | Metabolic traits |
Initial sample | 2,820 European ancestry individuals |
Replication sample | NA |
Region | 2q37.1 |
Chromosome id | chr2 |
Chromosome position | 233759924 |
Reported gene | UGT1A |
Mapped gene | UGT1A9, UGT1A7, UGT1A8, UGT1A10, UGT1A3, UGT1A5, UGT1A4, UGT1A6 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 54600, 54577, 54576, 54575, 54659, 54579, 54657, 54578 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs887829-T |
SNPs | rs887829 |
Merged | 0 |
SNP id current | 887829 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.337 |
P value | 3E-74 |
Pvalue mlog | 73.5228787452803 |
P value text | (SM-4 + 74 other traits) |
Or beta | 0.293 |
%95 Ci | [NR] unit increase |
Platform | Affymetrix, Illumina [534665] |
CNV | N |
Mapped trait | metabolite measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004725 |
Study accession | GCST001217 |
PubMed ID | 22558097 |
Journal | PLoS One |
Link | www.ncbi.nlm.nih.gov/pubmed/22558097 |
Study | A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia. |
Disease/Trait | Cholelithiasis-related traits in sickle cell anemia |
Initial sample | 905 African American cases |
Replication sample | 2,152 African American cases |
Region | 2q37.1 |
Chromosome id | chr2 |
Chromosome position | 233759924 |
Reported gene | UGT1A1, UGT1A10 |
Mapped gene | UGT1A9, UGT1A7, UGT1A8, UGT1A10, UGT1A3, UGT1A5, UGT1A4, UGT1A6 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 54600, 54577, 54576, 54575, 54659, 54579, 54657, 54578 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs887829-A |
SNPs | rs887829 |
Merged | 0 |
SNP id current | 887829 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.45 |
P value | 5E-25 |
Pvalue mlog | 24.3010299956639 |
P value text | |
Or beta | 0.19 |
%95 Ci | [NR] unit increase |
Platform | Illumina [569615] |
CNV | N |
Mapped trait | Sickle cell anemia, cholelithiasis, bilirubin measurement |
Mapped trait URI | http://www.orpha.net/ORDO/Orphanet_232, http://www.ebi.ac.uk/efo/EFO_0004799, http://www.ebi.ac.uk/efo/EFO_0004570 |
Study accession | GCST001497 |
PubMed ID | 23642732 |
Journal | Atherosclerosis |
Link | www.ncbi.nlm.nih.gov/pubmed/23642732 |
Study | Association of SNPs in the UGT1A gene cluster with total bilirubin and mortality in the Diabetes Heart Study. |
Disease/Trait | Bilirubin levels |
Initial sample | 1,180 European ancestry individuals from ~475 families |
Replication sample | |
Region | 2q37.1 |
Chromosome id | chr2 |
Chromosome position | 233759924 |
Reported gene | UGT1A |
Mapped gene | UGT1A9, UGT1A7, UGT1A8, UGT1A10, UGT1A3, UGT1A5, UGT1A4, UGT1A6 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 54600, 54577, 54576, 54575, 54659, 54579, 54657, 54578 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs887829-T |
SNPs | rs887829 |
Merged | 0 |
SNP id current | 887829 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.312 |
P value | 9E-20 |
Pvalue mlog | 19.0457574905606 |
P value text | |
Or beta | |
%95 Ci | |
Platform | Affymetrix, Illumina [371951] |
CNV | N |
Mapped trait | bilirubin measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004570 |
Study accession | GCST001976 |
PubMed ID | 24625756 |
Journal | PLoS Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/24625756 |
Study | Genetic determinants influencing human serum metabolome among African Americans. |
Disease/Trait | Serum metabolite levels |
Initial sample | 1,260 African American individuals |
Replication sample | NA |
Region | 2q37.1 |
Chromosome id | chr2 |
Chromosome position | 233759924 |
Reported gene | UGT1A |
Mapped gene | UGT1A9, UGT1A7, UGT1A8, UGT1A10, UGT1A3, UGT1A5, UGT1A4, UGT1A6 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 54600, 54577, 54576, 54575, 54659, 54579, 54657, 54578 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs887829-T |
SNPs | rs887829 |
Merged | 0 |
SNP id current | 887829 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.44 |
P value | 0.00000000000000001 |
Pvalue mlog | 17 |
P value text | (Bilirubin (E,E)) |
Or beta | 0.32 |
%95 Ci | [NR] unit increase |
Platform | Affymetrix [2341704] (imputed) |
CNV | N |
Mapped trait | serum metabolite measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005653 |
Study accession | GCST002388 |
PubMed ID | 24625756 |
Journal | PLoS Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/24625756 |
Study | Genetic determinants influencing human serum metabolome among African Americans. |
Disease/Trait | Serum metabolite levels |
Initial sample | 1,260 African American individuals |
Replication sample | NA |
Region | 2q37.1 |
Chromosome id | chr2 |
Chromosome position | 233759924 |
Reported gene | UGT1A |
Mapped gene | UGT1A9, UGT1A7, UGT1A8, UGT1A10, UGT1A3, UGT1A5, UGT1A4, UGT1A6 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 54600, 54577, 54576, 54575, 54659, 54579, 54657, 54578 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs887829-T |
SNPs | rs887829 |
Merged | 0 |
SNP id current | 887829 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.44 |
P value | 0.0000000000006 |
Pvalue mlog | 12.2218487496163 |
P value text | (Bilirubin (Z,Z)) |
Or beta | 0.34 |
%95 Ci | [NR] unit increase |
Platform | Affymetrix [2341704] (imputed) |
CNV | N |
Mapped trait | serum metabolite measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005653 |
Study accession | GCST002388 |
PubMed ID | 24625756 |
Journal | PLoS Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/24625756 |
Study | Genetic determinants influencing human serum metabolome among African Americans. |
Disease/Trait | Serum metabolite levels |
Initial sample | 1,260 African American individuals |
Replication sample | NA |
Region | 2q37.1 |
Chromosome id | chr2 |
Chromosome position | 233759924 |
Reported gene | UGT1A |
Mapped gene | UGT1A9, UGT1A7, UGT1A8, UGT1A10, UGT1A3, UGT1A5, UGT1A4, UGT1A6 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 54600, 54577, 54576, 54575, 54659, 54579, 54657, 54578 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs887829-T |
SNPs | rs887829 |
Merged | 0 |
SNP id current | 887829 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.44 |
P value | 8E-23 |
Pvalue mlog | 22.096910013008 |
P value text | (Biliverdin) |
Or beta | 0.32 |
%95 Ci | [NR] unit increase |
Platform | Affymetrix [2341704] (imputed) |
CNV | N |
Mapped trait | serum metabolite measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005653 |
Study accession | GCST002388 |
PubMed ID | 24816252 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/24816252 |
Study | An atlas of genetic influences on human blood metabolites. |
Disease/Trait | Blood metabolite levels |
Initial sample | 7,824 European ancestry individuals |
Replication sample | NA |
Region | 2q37.1 |
Chromosome id | chr2 |
Chromosome position | 233759924 |
Reported gene | UGT1A1 |
Mapped gene | UGT1A9, UGT1A7, UGT1A8, UGT1A10, UGT1A3, UGT1A5, UGT1A4, UGT1A6 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 54600, 54577, 54576, 54575, 54659, 54579, 54657, 54578 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs887829-T |
SNPs | rs887829 |
Merged | 0 |
SNP id current | 887829 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.34 |
P value | 3E-168 |
Pvalue mlog | 167.52287874528 |
P value text | (biliverdin) |
Or beta | 0.113 |
%95 Ci | [0.11-0.12] unit increase |
Platform | Affymetrix, Illumina [2100000] (imputed) |
CNV | N |
Mapped trait | blood metabolite measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005664 |
Study accession | GCST002443 |
PubMed ID | 24816252 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/24816252 |
Study | An atlas of genetic influences on human blood metabolites. |
Disease/Trait | Blood metabolite levels |
Initial sample | 7,824 European ancestry individuals |
Replication sample | NA |
Region | 2q37.1 |
Chromosome id | chr2 |
Chromosome position | 233759924 |
Reported gene | UGT1A1 |
Mapped gene | UGT1A9, UGT1A7, UGT1A8, UGT1A10, UGT1A3, UGT1A5, UGT1A4, UGT1A6 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 54600, 54577, 54576, 54575, 54659, 54579, 54657, 54578 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs887829-T |
SNPs | rs887829 |
Merged | 0 |
SNP id current | 887829 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.33 |
P value | 2E-152 |
Pvalue mlog | 151.698970004336 |
P value text | (bilirubin (Z,Z)) |
Or beta | 0.168 |
%95 Ci | [0.16-0.18] unit increase |
Platform | Affymetrix, Illumina [2100000] (imputed) |
CNV | N |
Mapped trait | blood metabolite measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005664 |
Study accession | GCST002443 |
PubMed ID | 24816252 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/24816252 |
Study | An atlas of genetic influences on human blood metabolites. |
Disease/Trait | Blood metabolite levels |
Initial sample | 7,824 European ancestry individuals |
Replication sample | NA |
Region | 2q37.1 |
Chromosome id | chr2 |
Chromosome position | 233759924 |
Reported gene | UGT1A1 |
Mapped gene | UGT1A9, UGT1A7, UGT1A8, UGT1A10, UGT1A3, UGT1A5, UGT1A4, UGT1A6 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 54600, 54577, 54576, 54575, 54659, 54579, 54657, 54578 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs887829-T |
SNPs | rs887829 |
Merged | 0 |
SNP id current | 887829 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.33 |
P value | 2E-140 |
Pvalue mlog | 139.698970004336 |
P value text | (X-11530) |
Or beta | 0.112 |
%95 Ci | [0.1-0.12] unit increase |
Platform | Affymetrix, Illumina [2100000] (imputed) |
CNV | N |
Mapped trait | blood metabolite measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005664 |
Study accession | GCST002443 |
PubMed ID | 24816252 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/24816252 |
Study | An atlas of genetic influences on human blood metabolites. |
Disease/Trait | Blood metabolite levels |
Initial sample | 7,824 European ancestry individuals |
Replication sample | NA |
Region | 2q37.1 |
Chromosome id | chr2 |
Chromosome position | 233759924 |
Reported gene | UGT1A1 |
Mapped gene | UGT1A9, UGT1A7, UGT1A8, UGT1A10, UGT1A3, UGT1A5, UGT1A4, UGT1A6 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 54600, 54577, 54576, 54575, 54659, 54579, 54657, 54578 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs887829-T |
SNPs | rs887829 |
Merged | 0 |
SNP id current | 887829 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.33 |
P value | 3E-114 |
Pvalue mlog | 113.52287874528 |
P value text | (X-11793--oxidized bilirubin) |
Or beta | 0.093 |
%95 Ci | [0.085-0.101] unit increase |
Platform | Affymetrix, Illumina [2100000] (imputed) |
CNV | N |
Mapped trait | blood metabolite measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005664 |
Study accession | GCST002443 |
PubMed ID | 24816252 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/24816252 |
Study | An atlas of genetic influences on human blood metabolites. |
Disease/Trait | Blood metabolite levels |
Initial sample | 7,824 European ancestry individuals |
Replication sample | NA |
Region | 2q37.1 |
Chromosome id | chr2 |
Chromosome position | 233759924 |
Reported gene | UGT1A1 |
Mapped gene | UGT1A9, UGT1A7, UGT1A8, UGT1A10, UGT1A3, UGT1A5, UGT1A4, UGT1A6 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 54600, 54577, 54576, 54575, 54659, 54579, 54657, 54578 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs887829-T |
SNPs | rs887829 |
Merged | 0 |
SNP id current | 887829 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.33 |
P value | 4E-95 |
Pvalue mlog | 94.397940008672 |
P value text | (bilirubin (E,E)) |
Or beta | 0.128 |
%95 Ci | [0.12-0.14] unit increase |
Platform | Affymetrix, Illumina [2100000] (imputed) |
CNV | N |
Mapped trait | blood metabolite measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005664 |
Study accession | GCST002443 |
PubMed ID | 24816252 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/24816252 |
Study | An atlas of genetic influences on human blood metabolites. |
Disease/Trait | Blood metabolite levels |
Initial sample | 7,824 European ancestry individuals |
Replication sample | NA |
Region | 2q37.1 |
Chromosome id | chr2 |
Chromosome position | 233759924 |
Reported gene | UGT1A1 |
Mapped gene | UGT1A9, UGT1A7, UGT1A8, UGT1A10, UGT1A3, UGT1A5, UGT1A4, UGT1A6 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 54600, 54577, 54576, 54575, 54659, 54579, 54657, 54578 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs887829-T |
SNPs | rs887829 |
Merged | 0 |
SNP id current | 887829 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.32 |
P value | 2E-56 |
Pvalue mlog | 55.698970004336 |
P value text | (bilirubin (E,Z or Z,E)) |
Or beta | 0.081 |
%95 Ci | [0.071-0.091] unit increase |
Platform | Affymetrix, Illumina [2100000] (imputed) |
CNV | N |
Mapped trait | blood metabolite measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005664 |
Study accession | GCST002443 |
PubMed ID | 23281178 |
Journal | Hum Mutat |
Link | www.ncbi.nlm.nih.gov/pubmed/23281178 |
Study | A genome-wide assessment of variability in human serum metabolism. |
Disease/Trait | Metabolite levels |
Initial sample | 214 European ancestry prostate cancer cases, 188 European ancestry controls |
Replication sample | 489 European ancestry prostate cancer cases |
Region | 2q37.1 |
Chromosome id | chr2 |
Chromosome position | 233759924 |
Reported gene | UGT1A8 |
Mapped gene | UGT1A9, UGT1A7, UGT1A8, UGT1A10, UGT1A3, UGT1A5, UGT1A4, UGT1A6 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 54600, 54577, 54576, 54575, 54659, 54579, 54657, 54578 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs887829-T |
SNPs | rs887829 |
Merged | 0 |
SNP id current | 887829 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 9E-25 |
Pvalue mlog | 24.0457574905606 |
P value text | (Bilirubin) |
Or beta | |
%95 Ci | |
Platform | Affymetrix [333722] |
CNV | N |
Mapped trait | metabolite measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004725 |
Study accession | GCST001882 |
PubMed ID | 25884002 |
Journal | Open Forum Infect Dis |
Link | www.ncbi.nlm.nih.gov/pubmed/25884002 |
Study | Phenome-wide Association Study Relating Pretreatment Laboratory Parameters With Human Genetic Variants in AIDS Clinical Trials Group Protocols. |
Disease/Trait | Total bilirubin levels in HIV-1 infection |
Initial sample | 2,547 individuals |
Replication sample | NA |
Region | 2q37.1 |
Chromosome id | chr2 |
Chromosome position | 233759924 |
Reported gene | UGT1A7, UGT1A6, UGT1A4, UGT1A, UGT1A9, UGT1A5, UGT1A3, UGT1A10, UGT1A8, UGT, LOC100286922, UGT1A1 |
Mapped gene | UGT1A9, UGT1A7, UGT1A8, UGT1A10, UGT1A3, UGT1A5, UGT1A4, UGT1A6 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 54600, 54577, 54576, 54575, 54659, 54579, 54657, 54578 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs887829-T |
SNPs | rs887829 |
Merged | 0 |
SNP id current | 887829 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.3656 |
P value | 7E-31 |
Pvalue mlog | 30.1549019599857 |
P value text | |
Or beta | 0.11449965 |
%95 Ci | [NR] unit increase |
Platform | Illumina [5954294] (imputed) |
CNV | N |
Mapped trait | HIV-1 infection, bilirubin measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0000180, http://www.ebi.ac.uk/efo/EFO_0004570 |
Study accession | GCST002745 |