Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs165975
rs165975
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs17264736
rs17264736
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs17264736
rs17264736
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1
CUI: C0427460
Disease:
Red cell distribution width determination
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs193538
rs193538
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1
CUI: C0017654
Disease:
Glomerular Filtration Rate
T 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs60782127
rs60782127
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs74475935
rs74475935
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1
CUI: C0948008
Disease:
Ischemic stroke
G 0.700 GeneticVariation GWASCAT Loci associated with ischaemic stroke and its subtypes (SiGN): a genome-wide association study. 26708676 2016
dbSNP: rs924135
rs924135
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1
CUI: C0200641
Disease:
Blood basophil count (lab test)
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs16967179
rs16967179
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1
CUI: C1445957
Disease:
Serum total cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs246214
rs246214
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1
CUI: C0035227
Disease:
Respiratory Function Tests
0.700 GeneticVariation GWASDB Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. 22837378 2012
dbSNP: rs8056298
rs8056298
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1
CUI: C1445957
Disease:
Serum total cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs9635480
rs9635480
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1
CUI: C0027051
Disease:
Myocardial Infarction
0.700 GeneticVariation GWASDB Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations. 21211798 2011
dbSNP: rs35628
rs35628
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1
CUI: C0006142
Disease:
Malignant neoplasm of breast
G 0.700 GeneticVariation CLINVAR
dbSNP: rs3888565
rs3888565
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1
CUI: C0006142
Disease:
Malignant neoplasm of breast
A 0.700 GeneticVariation CLINVAR
dbSNP: rs4148353
rs4148353
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1
CUI: C0006142
Disease:
Malignant neoplasm of breast
T 0.700 GeneticVariation CLINVAR
dbSNP: rs35628
rs35628
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE In terms of pathological characteristics, the <i>ABCC1</i> SNP rs35628 and the <i>ABCB1</i> SNP rs2032582 were significantly associated with tumor size, the <i>ABCC2</i> SNP rs2273697 was significantly associated with estrogen receptor status, and the <i>ABCG2</i> SNP rs2231142 was significantly associated with axillary lymph node status. 31391850 2019
dbSNP: rs3784867
rs3784867
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1
CUI: C0598589
Disease:
Inherited neuropathies
0.010 GeneticVariation BEFREE ADME analyses identified associations between VIPN and ABCC1 rs3784867 (P = 5.34 × 10<sup>-5</sup> ; OR = 4.9), and SLC5A7 rs1013940 (P = 9.00 × 10<sup>-4</sup> ; OR= 8.6); genes involved in vincristine transport and inherited neuropathies, respectively. 29999516 2019
dbSNP: rs41395947
rs41395947
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1
CUI: C0699790
Disease:
Colon Carcinoma
0.010 GeneticVariation BEFREE In contrast, for variant G128C, there was no significant association with the risk of developing colon cancer. 30834416 2019
dbSNP: rs41395947
rs41395947
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1
CUI: C0007102
Disease:
Malignant tumor of colon
0.010 GeneticVariation BEFREE In contrast, for variant G128C, there was no significant association with the risk of developing colon cancer. 30834416 2019
dbSNP: rs41494447
rs41494447
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1
CUI: C0699790
Disease:
Colon Carcinoma
0.010 GeneticVariation BEFREE Novel association between heterozygous genotype of single nucleotide polymorphism C218T in drug transporter ABCC1 gene and increased risk of colon cancer. 30834416 2019
dbSNP: rs41494447
rs41494447
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1
CUI: C0007102
Disease:
Malignant tumor of colon
0.010 GeneticVariation BEFREE Novel association between heterozygous genotype of single nucleotide polymorphism C218T in drug transporter ABCC1 gene and increased risk of colon cancer. 30834416 2019
dbSNP: rs17501331
rs17501331
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1
CUI: C0027947
Disease:
Neutropenia
0.010 GeneticVariation BEFREE To identify additional genetic markers contributing to variability in irinotecan pharmacokinetics and neutropenia, a regression analysis was performed in 78 irinotecan-treated patients to analyze comprehensively three hepatic efflux transporter genes (ABCB1, ABCC1 and ABCG2). rs6498588 (ABCC1) and rs12720066 (ABCB1) were associated with increased SN-38 exposure, and rs17501331 (ABCC1) and rs12720066 were associated with lower absolute neutrophil count nadir. rs6498588 and a variant in high linkage disequilibrium are located in transcriptionally active regions or are predicted to alter transcription factor binding sites. 27845419 2018
dbSNP: rs17501331
rs17501331
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1
CUI: C0023530
Disease:
Leukopenia
0.010 GeneticVariation BEFREE To identify additional genetic markers contributing to variability in irinotecan pharmacokinetics and neutropenia, a regression analysis was performed in 78 irinotecan-treated patients to analyze comprehensively three hepatic efflux transporter genes (ABCB1, ABCC1 and ABCG2). rs6498588 (ABCC1) and rs12720066 (ABCB1) were associated with increased SN-38 exposure, and rs17501331 (ABCC1) and rs12720066 were associated with lower absolute neutrophil count nadir. rs6498588 and a variant in high linkage disequilibrium are located in transcriptionally active regions or are predicted to alter transcription factor binding sites. 27845419 2018
dbSNP: rs212091
rs212091
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1
CUI: C0600139
Disease:
Prostate carcinoma
0.010 GeneticVariation BEFREE SNPs of CD44 (rs9666607), ABCC1 (rs35605 and rs212091) and GDF15 (rs1058587) were associated with PCa survival and predicted to be functional. 29726910 2018
dbSNP: rs212091
rs212091
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.010 GeneticVariation BEFREE SNPs of CD44 (rs9666607), ABCC1 (rs35605 and rs212091) and GDF15 (rs1058587) were associated with PCa survival and predicted to be functional. 29726910 2018
dbSNP: rs35605
rs35605
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.010 GeneticVariation BEFREE SNPs of CD44 (rs9666607), ABCC1 (rs35605 and rs212091) and GDF15 (rs1058587) were associated with PCa survival and predicted to be functional. 29726910 2018