Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72558202
rs72558202
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		G 0.810 CausalMutation CLINVAR

dbSNP: rs72558201
rs72558201
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		T 0.810 CausalMutation CLINVAR One mutation, 3517A-->T, predicting a I1173F substitution, was found in 22 homozygous Iranian Jewish DJS patients from 13 unrelated families and a second mutation, 3449G-->A, predicting a R1150H substitution, was found in 5 homozygous Moroccan Jewish DJS patients from 4 unrelated families. 11477083

2001
dbSNP: rs72558200
rs72558200
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		A 0.810 CausalMutation CLINVAR

dbSNP: rs56199535
rs56199535
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		T 0.810 CausalMutation CLINVAR

dbSNP: rs864309675
rs864309675
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		T 0.700 CausalMutation CLINVAR

dbSNP: rs762914474
rs762914474
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		A 0.700 CausalMutation CLINVAR

dbSNP: rs72558199
rs72558199
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		T 0.700 CausalMutation CLINVAR

dbSNP: rs72558199
rs72558199
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		T 0.700 GeneticVariation CLINVAR A mutation in the human canalicular multispecific organic anion transporter gene causes the Dubin-Johnson syndrome. 9185779

1997
dbSNP: rs72558199
rs72558199
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		T 0.700 GeneticVariation CLINVAR Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome. 21044052

2010
dbSNP: rs387906396
rs387906396
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		C 0.700 CausalMutation CLINVAR

dbSNP: rs387906395
rs387906395
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		A 0.700 CausalMutation CLINVAR

dbSNP: rs34937870
rs34937870
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		A 0.700 CausalMutation CLINVAR

dbSNP: rs146405172
rs146405172
ABCC2
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs72838129
rs72838129
ABCC2
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs4148398
rs4148398
ABCC2
CUI: C0021704
Disease: Intelligence
Intelligence 		0.700 GeneticVariation GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566

2018
dbSNP: rs4362077
rs4362077
ABCC2
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012
dbSNP: rs4362077
rs4362077
ABCC2
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012
dbSNP: rs72558202
rs72558202
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		0.810 GeneticVariation UNIPROT Neonatal Dubin-Johnson syndrome: novel compound heterozygous mutation in the ABCC2 gene. 25336012

2014
dbSNP: rs72558202
rs72558202
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		0.810 GeneticVariation UNIPROT Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome. 9425227

1998
dbSNP: rs72558202
rs72558202
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		0.810 GeneticVariation UNIPROT Exon-intron organization of the human multidrug-resistance protein 2 (MRP2) gene mutated in Dubin-Johnson syndrome. 10464142

1999
dbSNP: rs72558202
rs72558202
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		0.810 GeneticVariation UNIPROT Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome. 10053008

1999
dbSNP: rs72558202
rs72558202
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		0.810 GeneticVariation UNIPROT Polymorphism of the ABC transporter genes, MDR1, MRP1 and MRP2/cMOAT, in healthy Japanese subjects. 11266082

2001
dbSNP: rs72558202
rs72558202
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		0.810 GeneticVariation UNIPROT Impaired protein maturation of the conjugate export pump multidrug resistance protein 2 as a consequence of a deletion mutation in Dubin-Johnson syndrome. 11093739

2000
dbSNP: rs72558202
rs72558202
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		0.810 GeneticVariation UNIPROT Functional characterization of protein variants of the human multidrug transporter ABCC2 by a novel targeted expression system in fibrosarcoma cells. 22290738

2012
dbSNP: rs72558202
rs72558202
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		0.810 GeneticVariation UNIPROT Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin-Johnson syndrome. 11477083

2001