Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909071
rs121909071
Entrez Id: 5002
Gene Symbol: SLC22A18
SLC22A18
CUI: C0684249
Disease:
Carcinoma of lung
0.800 GeneticVariation UNIPROT Molecular testing for selection of patients with lung cancer for epidermal growth factor receptor and anaplastic lymphoma kinase tyrosine kinase inhibitors: American Society of Clinical Oncology endorsement of the College of American Pathologists/International Association for the study of lung cancer/association for molecular pathology guideline. 25311215 2014
dbSNP: rs121909071
rs121909071
Entrez Id: 5002
Gene Symbol: SLC22A18
SLC22A18
CUI: C0684249
Disease:
Carcinoma of lung
0.800 GeneticVariation UNIPROT Guideline Recommendations for Testing of ALK Gene Rearrangement in Lung Cancer: A Proposal of the Korean Cardiopulmonary Pathology Study Group. 24627688 2014
dbSNP: rs121909071
rs121909071
Entrez Id: 5002
Gene Symbol: SLC22A18
SLC22A18
CUI: C0684249
Disease:
Carcinoma of lung
0.800 GeneticVariation UNIPROT Non-small cell lung cancer and precision medicine: a model for the incorporation of genomic features into clinical trial design. 24846033 2014
dbSNP: rs121909071
rs121909071
Entrez Id: 5002
Gene Symbol: SLC22A18
SLC22A18
CUI: C0684249
Disease:
Carcinoma of lung
0.800 GeneticVariation UNIPROT Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology. 23562183 2013
dbSNP: rs121909071
rs121909071
Entrez Id: 5002
Gene Symbol: SLC22A18
SLC22A18
CUI: C0684249
Disease:
Carcinoma of lung
0.800 GeneticVariation UNIPROT Guideline Recommendations for EGFR Mutation Testing in Lung Cancer: Proposal of the Korean Cardiopulmonary Pathology Study Group. 23667368 2013
dbSNP: rs16928809
rs16928809
Entrez Id: 5002
Gene Symbol: SLC22A18
SLC22A18
CUI: C0344395
Disease:
Bilirubin measurement
A 0.800 GeneticVariation GWASCAT Genome-wide association meta-analysis for total serum bilirubin levels. 19414484 2009
dbSNP: rs16928809
rs16928809
Entrez Id: 5002
Gene Symbol: SLC22A18
SLC22A18
CUI: C0344395
Disease:
Bilirubin measurement
A 0.800 GeneticVariation GWASDB Genome-wide association meta-analysis for total serum bilirubin levels. 19414484 2009
dbSNP: rs121909071
rs121909071
Entrez Id: 5002
Gene Symbol: SLC22A18
SLC22A18
CUI: C0684249
Disease:
Carcinoma of lung
T 0.800 CausalMutation CLINVAR
dbSNP: rs1661052
rs1661052
Entrez Id: 5002
Gene Symbol: SLC22A18
SLC22A18
CUI: C0344395
Disease:
Bilirubin measurement
0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs16928809
rs16928809
Entrez Id: 5002
Gene Symbol: SLC22A18
SLC22A18
CUI: C0392885
Disease:
High density lipoprotein measurement
A 0.700 GeneticVariation GWASCAT Exome-wide association study of plasma lipids in >300,000 individuals. 29083408 2017
dbSNP: rs16928809
rs16928809
Entrez Id: 5002
Gene Symbol: SLC22A18
SLC22A18
CUI: C1287365
Disease:
Bilirubin level result
A 0.700 GeneticVariation GWASDB Genome-wide association meta-analysis for total serum bilirubin levels. 19414484 2009
dbSNP: rs78838117
rs78838117
Entrez Id: 5002
Gene Symbol: SLC22A18
SLC22A18
CUI: C4016802
Disease:
RHABDOMYOSARCOMA, SOMATIC
A 0.700 CausalMutation CLINVAR
dbSNP: rs749280481
rs749280481
Entrez Id: 5002
Gene Symbol: SLC22A18
SLC22A18
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE The G1120A substitution thus represents either a rare polymorphism or a tumor-predisposing mutation, because the mutant allele was of maternal origin and preferentially expressed in the patient's tissue. 9751628 1998
dbSNP: rs749280481
rs749280481
Entrez Id: 5002
Gene Symbol: SLC22A18
SLC22A18
CUI: C0027708
Disease:
Nephroblastoma
0.010 GeneticVariation BEFREE Mutational analysis of TSSC5 by direct DNA sequencing of exons revealed a base substitution of G1120A in a Wilms' tumor, matched normal kidney, and the patient's mother, changed Arg at codon 309 to Gln. 9751628 1998
dbSNP: rs749280481
rs749280481
Entrez Id: 5002
Gene Symbol: SLC22A18
SLC22A18
CUI: C1333015
Disease:
Childhood Kidney Wilms Tumor
0.010 GeneticVariation BEFREE Mutational analysis of TSSC5 by direct DNA sequencing of exons revealed a base substitution of G1120A in a Wilms' tumor, matched normal kidney, and the patient's mother, changed Arg at codon 309 to Gln. 9751628 1998