Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1052501
rs1052501
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.810 GeneticVariation BEFREE Common single-nucleotide polymorphisms (SNPs) at 2p23.3 (rs6746082), 3p22.1 (rs1052501), 3q26.2 (rs10936599), 6p21.33 (rs2285803), 7p15.3 (rs4487645), 17p11.2 (rs4273077), and 22q13.1 (rs877529) have recently been shown to influence MM risk. 24449210

2014

dbSNP: rs10936599
rs10936599
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.810 GeneticVariation BEFREE Common single-nucleotide polymorphisms (SNPs) at 2p23.3 (rs6746082), 3p22.1 (rs1052501), 3q26.2 (rs10936599), 6p21.33 (rs2285803), 7p15.3 (rs4487645), 17p11.2 (rs4273077), and 22q13.1 (rs877529) have recently been shown to influence MM risk. 24449210

2014

dbSNP: rs2285803
rs2285803
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.810 GeneticVariation BEFREE Common single-nucleotide polymorphisms (SNPs) at 2p23.3 (rs6746082), 3p22.1 (rs1052501), 3q26.2 (rs10936599), 6p21.33 (rs2285803), 7p15.3 (rs4487645), 17p11.2 (rs4273077), and 22q13.1 (rs877529) have recently been shown to influence MM risk. 24449210

2014

dbSNP: rs4273077
rs4273077
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.810 GeneticVariation BEFREE Common single-nucleotide polymorphisms (SNPs) at 2p23.3 (rs6746082), 3p22.1 (rs1052501), 3q26.2 (rs10936599), 6p21.33 (rs2285803), 7p15.3 (rs4487645), 17p11.2 (rs4273077), and 22q13.1 (rs877529) have recently been shown to influence MM risk. 24449210

2014

dbSNP: rs4487645
rs4487645
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.810 GeneticVariation BEFREE Common single-nucleotide polymorphisms (SNPs) at 2p23.3 (rs6746082), 3p22.1 (rs1052501), 3q26.2 (rs10936599), 6p21.33 (rs2285803), 7p15.3 (rs4487645), 17p11.2 (rs4273077), and 22q13.1 (rs877529) have recently been shown to influence MM risk. 24449210

2014

dbSNP: rs6746082
rs6746082
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.810 GeneticVariation BEFREE Common single-nucleotide polymorphisms (SNPs) at 2p23.3 (rs6746082), 3p22.1 (rs1052501), 3q26.2 (rs10936599), 6p21.33 (rs2285803), 7p15.3 (rs4487645), 17p11.2 (rs4273077), and 22q13.1 (rs877529) have recently been shown to influence MM risk. 24449210

2014

dbSNP: rs877529
rs877529
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.810 GeneticVariation BEFREE Common single-nucleotide polymorphisms (SNPs) at 2p23.3 (rs6746082), 3p22.1 (rs1052501), 3q26.2 (rs10936599), 6p21.33 (rs2285803), 7p15.3 (rs4487645), 17p11.2 (rs4273077), and 22q13.1 (rs877529) have recently been shown to influence MM risk. 24449210

2014

dbSNP: rs113488022
rs113488022
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.770 GeneticVariation BEFREE Finally, rafoxanide had anti-proliferation effect on both wild type and B-Raf V600E mutated MM cells. 30583070

2019

dbSNP: rs113488022
rs113488022
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.770 GeneticVariation BEFREE Previous studies in Western countries demonstrated BRAF V600E mutation only in a small subset of multiple myeloma (MM) patients. 29807803

2018

dbSNP: rs113488022
rs113488022
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.770 GeneticVariation BEFREE Vemurafenib in combination with cobimetinib in relapsed and refractory extramedullary multiple myeloma harboring the BRAF V600E mutation. 27641727

2017

dbSNP: rs113488022
rs113488022
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.770 GeneticVariation BEFREE We analyzed 121 cases, including 26 HCLs, 52 non-HCL splenic lymphomas, 22 chronic lymphocytic leukemias/small lymphocytic lymphomas (CLLs/SLLs), and 21 plasma cell neoplasms (PCNs) for BRAF V600E expression by IHC. 26071465

2015

dbSNP: rs113488022
rs113488022
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.770 GeneticVariation BEFREE BRAF V600E mutation in early-stage multiple myeloma: good response to broad acting drugs and no relation to prognosis. 25794135

2015

dbSNP: rs113488022
rs113488022
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.770 GeneticVariation BEFREE Targeting the BRAF V600E mutation in multiple myeloma. 23612012

2013

dbSNP: rs113488022
rs113488022
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.770 GeneticVariation BEFREE While no RASSF1A or BRAF mutation (V599E) was detected in any of the primary MM studied (n = 21), the latter was found in the U266 cell line. 14616967

2003

dbSNP: rs78311289
rs78311289
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.730 GeneticVariation BEFREE Cell apoptosis assays were performed in a plasmacytoma cell line, FR4 cells and a myeloma cell line, RPMI8226 cells overexpressing wild-type FGFR3 (FGFR3(WT)) or two different mutants, FGFR3(K650E) or FGFR3(Y373C), and the induction of endoplasmic reticulum (ER) stress protein was compared between each type of cell. 21273588

2011

dbSNP: rs78311289
rs78311289
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.730 GeneticVariation BEFREE Since cell lines may represent useful models for investigating the effects of deregulated FGFR3 mutants in MM, we analysed the expression, activation, signaling pathways and oncogenic potential of three mutants identified so far: the Y373C and K650E in the KMS-11 and OPM-2 cell lines respectively, and the novel G384D mutation here identified in the KMS-18 cell line. 11429702

2001

dbSNP: rs78311289
rs78311289
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.730 GeneticVariation BEFREE Mutation of Lys650-->Glu in the activation loop of the FGFR3 kinase domain causes the lethal human skeletal disorder thanatophoric dysplasia type II (TDII) and is also found in patients with multiple myeloma, bladder and cervical carcinomas. 10918587

2000

dbSNP: rs397516896
rs397516896
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.710 GeneticVariation BEFREE Interestingly, we detected a novel BRAF D594N mutation in one patient with multiple myeloma. 21910720

2011

dbSNP: rs72773978
rs72773978
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.710 GeneticVariation BEFREE Fibroblast growth factor receptor 1 oncogene partner N-terminal like gene (FOPNL) rs72773978 polymorphism was identified as an adverse prognostic factor in multiple myeloma (MM). 28691553

2018

dbSNP: rs8058578
rs8058578
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.710 GeneticVariation BEFREE Two newly identified candidate loci for MM, rs1948915 (8q24.21) and rs8058578 (16p11.2), were nominally associated with MGUS. 28375557

2017

dbSNP: rs9344
rs9344
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.710 GeneticVariation BEFREE In AL amyloidosis, rs9344 at the splice site of cyclin D1, promoting translocation (11;14), reached the highest significance, P=7.80 × 10<sup>-11</sup>; the SNP was only marginally significant in MM. 28025584

2017

dbSNP: rs397507444
rs397507444
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.080 GeneticVariation BEFREE Our objective was to determine the association between the methylenetetrahydrofolate reductase polymorphisms (C677T and A1298C) and the risk of developing acute lymphoblastic leukemia (ALL), chronic myeloid leukemia (CML), acute myeloid leukemia (AML), and multiple myelomas (MM) in Latinos. 31188929

2019

dbSNP: rs397507444
rs397507444
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.080 GeneticVariation BEFREE Overall, no significant association was found between MTHFR A1298C polymorphism and MM risk under all four genetic models (AC vs. AA, OR = 0.99, 95%CI = 0.82-1.20; CC vs. AA, OR = 1.14, 95%CI = 0.77-1.68; recessive model, OR = 1.10, 95%CI = 0.76-1.59; dominant model, OR = 1.01, 95%CI = 0.84-1.22). 26022785

2015

dbSNP: rs397507444
rs397507444
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.080 GeneticVariation BEFREE Case-control studies investigating associations between multiple myeloma (MM) and the C677T and A1298C polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) have provided controversial results. 18350248

2008

dbSNP: rs397507444
rs397507444
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.080 GeneticVariation BEFREE We tested whether the polymorphisms of the methylenetetrahydrofolate reductase gene, MTHFR C677T and A1298C, the methionine synthase gene, MTR A2756G, the methionine synthase reductase gene, MTRR A66G, and the thymidylate synthase gene, TYMS 2R-->3R, involved in folate and methionine metabolism, altered the risk for multiple myeloma (MM). 17655928

2008