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Rs6742078

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Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 normal
(G;T)
(T;T) 2.1 +16% bilirubin levels increased risk of gallstones
ReferenceGRCh38 38.1/141
Chromosome2
Position233763993
GeneUGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10
is asnp
is mentioned by
dbSNPrs6742078
ebirs6742078
Exacrs6742078
PheGenIrs6742078
nextbiors6742078
hapmaprs6742078
1000 genomesrs6742078
hgdprs6742078
ensemblrs6742078
gopubmedrs6742078
geneviewrs6742078
scholarrs6742078
googlers6742078
pharmgkbrs6742078
gwascentralrs6742078
openSNPrs6742078
23andMers6742078
23andMe allrs6742078
SNP Nexus

SNPshotrs6742078
SNPdbers6742078
MSV3drs6742078
GWAS Ctlgrs6742078
GMAF0.3035
Max Magnitude2.1
? (G;G) (G;T) (T;T) 28
GWAS snp
PMID [PMID 19414484OA-icon.png]
Trait Serum bilirubin levels
Title Genome-wide association meta-analysis for total serum bilirubin levels
Risk Allele T
P-val 0
Odds Ratio 0.23 [0.21-0.25] umol/l increase in log(tbil)


[PMID 20837016] Loci from a genome-wide analysis of bilirubin levels are associated with gallstone risk and composition

OMIM191740
DescUDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1
Variant
Relatedalso
OMIM191740
Desc
Variant0025
Relatedalso
OMIM601816
Desc
Variant
Relatedalso


[PMID 21412181] Genetic variation in UGT1A1 typical of Gilbert syndrome is associated with unconjugated hyperbilirubinemia in patients receiving tocilizumab

GWAS snp
PMID [PMID 22511988OA-icon.png]
Trait
Title A genome-wide association study identifies UGT1A1 as a regulator of serum cell-free DNA in young adults: The Cardiovascular Risk in Young Finns Study.
Risk Allele T
P-val 2E-23
Odds Ratio 0.3358 None

[PMID 19223546OA-icon.png] Xenobiotic metabolizing gene variants, dietary heterocyclic amine intake, and risk of prostate cancer.

[PMID 19482841OA-icon.png] Serum bilirubin levels on ICU admission are associated with ARDS development and mortality in sepsis.


GET Evidence
rs6742078
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.375
summary



[PMID 23753274] Extreme bilirubin levels as a causal risk factor for symptomatic gallstone disease


[PMID 23371916] A Genome-Wide Association Study for Serum Bilirubin Levels and Gene-Environment Interaction in a Chinese Population


[PMID 22805420] Genetically elevated bilirubin and risk of ischaemic heart disease: three Mendelian randomization studies and a meta-analysis


ClinVar
Risk rs6742078(T;T)
Alt rs6742078(T;T)
Reference rs6742078(G;G)
Significance Other
Disease Bilirubin
Variation info
Gene UGT1A5 UGT1A9 UGT1A3 UGT1A6 UGT1A4 UGT1A1 UGT1A8 UGT1A10 UGT1A7
CLNDBN Bilirubin, serum level of, quantitative trait locus 1
Reversed 0
HGVS NC_000002.12:g.233763993G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013083.2,



GWAS snp
PMID [PMID 20639394]
Trait Bilirubin levels
Title Genome-wide association of serum bilirubin levels in Korean population.
Risk Allele
P-val 1E-158
Odds Ratio .18 [NR] bilirubin level increase