SNP Detail For rs4148325
1.Mapping Information
Human SNP ID rs4148325
Human chromosome chr2
Human SNP position 233764663
Pig chromosome chr15
Pig SNP position 148155772
2.Annotation Information
PubMed ID21646302
JournalMayo Clin Proc
Linkwww.ncbi.nlm.nih.gov/pubmed/21646302
StudyMayo Genome Consortia: a genotype-phenotype resource for genome-wide association studies with an application to the analysis of circulating bilirubin levels.
Disease/TraitBilirubin levels
Initial sample6,307 European ancestry individuals
Replication sampleNA
Region2q37.1
Chromosome idchr2
Chromosome position233764663
Reported geneUGT1A
Mapped geneUGT1A3, UGT1A4, UGT1A1, UGT1A5, UGT1A7, UGT1A9, UGT1A8, UGT1A10, UGT1A6
Upstream gene id
Downstream gene id
SNP gene ids54659, 54657, 54658, 54579, 54577, 54600, 54576, 54575, 54578
Upstream gene distance
Downstream gene distance
SNP risk allelers4148325-?
SNPsrs4148325
Merged0
SNP id current4148325
Contextintron_variant
Intergenic0
Allele frequency0.33
P value5E-62
Pvalue mlog61.3010299956639
P value text
Or beta0.17
%95 Ci[0.15-0.19] mg/dL increase
PlatformIllumina [583129]
CNVN
Mapped traitbilirubin measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004570
Study accessionGCST001091
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 position233764663
Reported geneUGT1A7, UGT1A, UGT1A9, UGT1A5, UGT1A10, UGT1A3, UGT1A1, UGT1A8, UGT1A6, UGT1A4, LOC100286922, MROH2A
Mapped geneUGT1A3, UGT1A4, UGT1A1, UGT1A5, UGT1A7, UGT1A9, UGT1A8, UGT1A10, UGT1A6
Upstream gene id
Downstream gene id
SNP gene ids54659, 54657, 54658, 54579, 54577, 54600, 54576, 54575, 54578
Upstream gene distance
Downstream gene distance
SNP risk allelers4148325-?
SNPsrs4148325
Merged0
SNP id current4148325
Contextintron_variant
Intergenic0
Allele frequency0.3654
P value1E-30
Pvalue mlog30
P value textrs4148324, rs3771341
Or beta0.113883175
%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
PubMed ID25246029
JournalActa Diabetol
Linkwww.ncbi.nlm.nih.gov/pubmed/25246029
StudyGenome-wide analysis of hepatic lipid content in extreme obesity.
Disease/TraitBilirubin levels in extreme obesity
Initial sample1,868 European ancestry cases
Replication sampleNA
Region2q37.1
Chromosome idchr2
Chromosome position233764663
Reported geneUGT1A1
Mapped geneUGT1A3, UGT1A4, UGT1A1, UGT1A5, UGT1A7, UGT1A9, UGT1A8, UGT1A10, UGT1A6
Upstream gene id
Downstream gene id
SNP gene ids54659, 54657, 54658, 54579, 54577, 54600, 54576, 54575, 54578
Upstream gene distance
Downstream gene distance
SNP risk allelers4148325-?
SNPsrs4148325
Merged0
SNP id current4148325
Contextintron_variant
Intergenic0
Allele frequencyNR
P value5E-93
Pvalue mlog92.3010299956639
P value text
Or beta
%95 Ci
PlatformIllumina [605718]
CNVN
Mapped traitbilirubin measurement, obesity
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004570, http://www.ebi.ac.uk/efo/EFO_0001073
Study accessionGCST002628