Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519793
rs1057519793
0.710 GeneticVariation BEFREE Previous report has demonstrated the type-II inhibitor ponatinib is the most potentially effective agent for RMS but still hard to starboard the V550E/L mutants. 31128178

2019

dbSNP: rs1057519793
rs1057519793
A 0.710 GeneticVariation CLINVAR Targeting wild-type and mutationally activated FGFR4 in rhabdomyosarcoma with the inhibitor ponatinib (AP24534). 24124571

2013

dbSNP: rs1057519793
rs1057519793
A 0.710 GeneticVariation CLINVAR Identification of FGFR4-activating mutations in human rhabdomyosarcomas that promote metastasis in xenotransplanted models. 19809159

2009

dbSNP: rs1057519792
rs1057519792
A 0.700 GeneticVariation CLINVAR Targeting wild-type and mutationally activated FGFR4 in rhabdomyosarcoma with the inhibitor ponatinib (AP24534). 24124571

2013

dbSNP: rs1057519792
rs1057519792
G 0.700 GeneticVariation CLINVAR Targeting wild-type and mutationally activated FGFR4 in rhabdomyosarcoma with the inhibitor ponatinib (AP24534). 24124571

2013

dbSNP: rs1057519696
rs1057519696
ALK
T 0.700 CausalMutation CLINVAR Anaplastic lymphoma kinase aberrations in rhabdomyosarcoma: clinical and prognostic implications. 22184391

2012

dbSNP: rs80357989
rs80357989
TGTAATGA 0.700 CausalMutation CLINVAR

dbSNP: rs121913529
rs121913529
0.040 GeneticVariation BEFREE First, to compare YAP1 S127A and KRAS G12V-driven rhabdomyosarcomas, we re-analysed gene expression microarray datasets from mouse rhabdomyosarcomas caused by these genes. 30353028

2018

dbSNP: rs121913529
rs121913529
0.040 GeneticVariation BEFREE We performed an overexpression screen of chromatin-modifying factors in a KRAS(G12D)-driven zebrafish model for RMS. 23705022

2013

dbSNP: rs121913529
rs121913529
0.040 GeneticVariation BEFREE By contrast, mylz2:KRAS(G12D) tumors more closely resembled mature skeletal muscle and were most similar to well-differentiated human rhabdomyosarcoma in terms of gene expression. mylz2:KRAS(G12D) fish showed significantly improved survival compared with cdh15:KRAS(G12D) and rag2:KRAS(G12D) fish. 23821038

2013

dbSNP: rs121913529
rs121913529
0.040 GeneticVariation BEFREE An oncogenic G12D KRAS mutation was detected in both the epidermal component of the EN and in the rhabdomyosarcoma but not in the dermal component of the EN lesion or in unaffected tissues, including normal skin or blood. 20805368

2010

dbSNP: rs1444669684
rs1444669684
0.020 GeneticVariation BEFREE First, to compare YAP1 S127A and KRAS G12V-driven rhabdomyosarcomas, we re-analysed gene expression microarray datasets from mouse rhabdomyosarcomas caused by these genes. 30353028

2018

dbSNP: rs1444669684
rs1444669684
0.020 GeneticVariation BEFREE Expression of Kirsten rat sarcoma viral oncogene [Kras(G12V)] and disruption of cyclin-dependent kinase inhibitor 2A (CDKN2A; p16p19) in prospectively isolated satellite cells gave rise to pleomorphic rhabdomyosarcomas (MyoD-, Myogenin- and Desmin-positive), whereas introduction of the same oncogenetic hits in nonmyogenic progenitors induced pleomorphic sarcomas lacking myogenic features. 22135462

2011

dbSNP: rs28934576
rs28934576
0.020 GeneticVariation BEFREE Patient 1 with LFS and TP53(R273H) developed a rhabdomyosarcoma twice at the ages of 18 months and 21 years. 21484931

2011

dbSNP: rs28934576
rs28934576
0.020 GeneticVariation BEFREE One was a rhabdomyosarcoma with a missense mutation at codon 273, substituting histidine (His) for arginine (Arg). 9269965

1997

dbSNP: rs766121173
rs766121173
0.010 GeneticVariation BEFREE The V550E/L and N535D/K mutations of FGFR4 in RMS can lead to strong drug resistance to almost all of the type-I inhibitors. 31128178

2019

dbSNP: rs104894228
rs104894228
0.010 GeneticVariation BEFREE Furthermore, the HRAS c.37G>C mutation has never been related to any type of rhabdomyosarcoma. 29430633

2018

dbSNP: rs1131691021
rs1131691021
0.010 GeneticVariation BEFREE First, to compare YAP1 S127A and KRAS G12V-driven rhabdomyosarcomas, we re-analysed gene expression microarray datasets from mouse rhabdomyosarcomas caused by these genes. 30353028

2018

dbSNP: rs762846821
rs762846821
0.010 GeneticVariation BEFREE First, to compare YAP1 S127A and KRAS G12V-driven rhabdomyosarcomas, we re-analysed gene expression microarray datasets from mouse rhabdomyosarcomas caused by these genes. 30353028

2018

dbSNP: rs2279343
rs2279343
0.010 GeneticVariation BEFREE Our results demonstrated that CYP2B6 rs2279343 may predict EFS in RMS patients and warrants future studies to clarify the pharmacogenetics of CPA in pediatrics. 27388155

2016

dbSNP: rs3211371
rs3211371
0.010 GeneticVariation BEFREE There was no association between rs3745274, rs3211371 genotypes and survival outcomes of RMS. 27388155

2016

dbSNP: rs147055703
rs147055703
0.010 GeneticVariation BEFREE We performed an overexpression screen of chromatin-modifying factors in a KRAS(G12D)-driven zebrafish model for RMS. 23705022

2013

dbSNP: rs1196220479
rs1196220479
0.010 GeneticVariation BEFREE Patient 1 with LFS and TP53(R273H) developed a rhabdomyosarcoma twice at the ages of 18 months and 21 years. 21484931

2011

dbSNP: rs104894229
rs104894229
0.010 GeneticVariation BEFREE To gain an understanding of the relationship between constitutional HRAS mutations and malignancy, HRAS was sequenced in an advanced biphasic rhabdomyosarcoma/fibrosarcoma from an individual with a 34G --> A mutation. 16372351

2006

dbSNP: rs121918453
rs121918453
0.010 GeneticVariation BEFREE In a screen for mutations of PTPN11 in 7 cell lines and 30 fresh tumors of RMS and in 25 cell lines and 40 fresh tumors of NB, we identified a missense mutation (A72T) in an embryonal RMS patient. 16518851

2006