Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11030967
rs11030967
Entrez Id: 6240
Gene Symbol: RRM1
RRM1
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: rs11030967
rs11030967
Entrez Id: 6240
Gene Symbol: RRM1
RRM1
CUI: C0427460
Disease:
Red cell distribution width determination
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs11030976
rs11030976
Entrez Id: 6240
Gene Symbol: RRM1
RRM1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7947605
rs7947605
Entrez Id: 6240
Gene Symbol: RRM1
RRM1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin
0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs11030967
rs11030967
Entrez Id: 6240
Gene Symbol: RRM1
RRM1
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs11030967
rs11030967
Entrez Id: 6240
Gene Symbol: RRM1
RRM1
CUI: C0427460
Disease:
Red cell distribution width determination
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs720106
rs720106
Entrez Id: 6240
Gene Symbol: RRM1
RRM1
CUI: C0200695
Disease:
Fetal hemoglobin determination
0.700 GeneticVariation GWASDB Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. 18245381 2008
dbSNP: rs1042919
rs1042919
Entrez Id: 6240
Gene Symbol: RRM1
RRM1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.020 GeneticVariation BEFREE Among these 17 poly-miRTS, five Ara-C metabolic gene single nucleotide polymorphisms (SNPs, NT5C2 rs10786736 and rs8139, SLC29A1 rs3734703, DCTD rs7278, and RRM1 rs1042919) were identified to significantly associate with complete AML remission and/or overall and relapse-free survival (OS and RFS, respectively), and four anthracycline-metabolic gene SNPs (ABCC1 rs3743527, rs212091, and rs212090 and CBR1 rs9024) were significantly associated with chemotherapy-related toxicities. 29141648 2017
dbSNP: rs1042919
rs1042919
Entrez Id: 6240
Gene Symbol: RRM1
RRM1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.020 GeneticVariation BEFREE RRM1 SNPs rs1042919 (which occurs in linkage disequilbrium with multiple other SNPs) and promoter SNP rs1561876 were associated with intracellular 1-β-D-arabinofuranosyl-CTP levels, response after remission induction therapy, risk of relapse and overall survival in AML patients receiving cytarabine and cladribine. 24024897 2013
dbSNP: rs1399104933
rs1399104933
Entrez Id: 6240
Gene Symbol: RRM1
RRM1
CUI: C0338451
Disease:
Frontotemporal dementia
0.010 GeneticVariation BEFREE Here we report an ALS/FTD kindred with a novel K181E TDP-43 mutation that is located in close proximity to the RRM1 domain. 31605140 2019
dbSNP: rs1399104933
rs1399104933
Entrez Id: 6240
Gene Symbol: RRM1
RRM1
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis
0.010 GeneticVariation BEFREE Here we report an ALS/FTD kindred with a novel K181E TDP-43 mutation that is located in close proximity to the RRM1 domain. 31605140 2019
dbSNP: rs183484
rs183484
Entrez Id: 6240
Gene Symbol: RRM1
RRM1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.010 GeneticVariation BEFREE Three SNPs (NME1 rs3760468, NME2 rs3744660, and RRM1 rs183484) were associated with worse OS in AML patients. 29631596 2018
dbSNP: rs183484
rs183484
Entrez Id: 6240
Gene Symbol: RRM1
RRM1
CUI: C0023465
Disease:
Acute monocytic leukemia
0.010 GeneticVariation BEFREE Three SNPs (NME1 rs3760468, NME2 rs3744660, and RRM1 rs183484) were associated with worse OS in AML patients. 29631596 2018
dbSNP: rs1465952
rs1465952
Entrez Id: 6240;6786
Gene Symbol: RRM1;STIM1
RRM1;STIM1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE 68 SNPs were significantly associated with lung cancer in the discovery set and tested for replication.Among the 68 SNPs, three SNPs (corepressor interacting with RBPJ 1 (CIR1) rs13009079T>C, ribonucleotide reductase M1 (RRM1) rs1465952T>C and solute carrier family 38, member 4 (SLC38A4) rs2429467C>T) consistantly showed significant associations with lung cancer in the replication study. 27587543 2016
dbSNP: rs1465952
rs1465952
Entrez Id: 6240;6786
Gene Symbol: RRM1;STIM1
RRM1;STIM1
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE 68 SNPs were significantly associated with lung cancer in the discovery set and tested for replication.Among the 68 SNPs, three SNPs (corepressor interacting with RBPJ 1 (CIR1) rs13009079T>C, ribonucleotide reductase M1 (RRM1) rs1465952T>C and solute carrier family 38, member 4 (SLC38A4) rs2429467C>T) consistantly showed significant associations with lung cancer in the replication study. 27587543 2016
dbSNP: rs1465952
rs1465952
Entrez Id: 6240;6786
Gene Symbol: RRM1;STIM1
RRM1;STIM1
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE 68 SNPs were significantly associated with lung cancer in the discovery set and tested for replication.Among the 68 SNPs, three SNPs (corepressor interacting with RBPJ 1 (CIR1) rs13009079T>C, ribonucleotide reductase M1 (RRM1) rs1465952T>C and solute carrier family 38, member 4 (SLC38A4) rs2429467C>T) consistantly showed significant associations with lung cancer in the replication study. 27587543 2016
dbSNP: rs12806698
rs12806698
Entrez Id: 6240
Gene Symbol: RRM1
RRM1
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE The aim of this study is to investigate rs13181 ERCC2 (T>G) (Lys751Gln), rs12806698 RRM1 (-269C>A) and rs6759180 (located in the 5'UTR) RRM2 (10126436G>A) gene polymorphisms by using real time PCR technique in patients with NSCLC. 26718430 2015
dbSNP: rs768206264
rs768206264
Entrez Id: 6240
Gene Symbol: RRM1
RRM1
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE We evaluated seven single-nucleotide polymorphisms of six genes CDA Lys27Gln (A/C); CDA C435T; ERCC1 C118T; XRCC3 Thr241Met (C/T); XPD Lys751Gln (A/C); P53 Arg72Pro (G/C), and RRM1 C524T in 192 chemotherapy-naive patients with advanced NSCLC treated with cisplatin/gemcitabine-based regimen by TaqMan probe-based assays with 7300 Real-Time PCR System, using genomic DNA extracted from blood samples. 22052224 2011