Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519919
rs1057519919
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0281361
Disease:
Adenocarcinoma of pancreas
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519919
rs1057519919
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0153574
Disease:
Malignant Uterine Corpus Neoplasm
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519919
rs1057519919
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C2749484
Disease:
NEUROBLASTOMA, SUSCEPTIBILITY TO
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519919
rs1057519919
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0017636
Disease:
Glioblastoma
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519919
rs1057519919
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0025149
Disease:
Medulloblastoma
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs113994115
rs113994115
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs121913667
rs121913667
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0796068
Disease:
Oculodigitoesophagoduodenal syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs1553370260
rs1553370260
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0266174
Disease:
Duodenal atresia
ACTCG 0.700 CausalMutation CLINVAR
dbSNP: rs1553370260
rs1553370260
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1
ACTCG 0.700 CausalMutation CLINVAR
dbSNP: rs1553370260
rs1553370260
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C4551563
Disease:
Microcephaly (physical finding)
ACTCG 0.700 CausalMutation CLINVAR
dbSNP: rs1553370260
rs1553370260
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C1859455
Disease:
Small anterior fontanelle
ACTCG 0.700 CausalMutation CLINVAR
dbSNP: rs1558534266
rs1558534266
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1
GC 0.700 CausalMutation CLINVAR
dbSNP: rs1200941109
rs1200941109
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0206663
Disease:
Neuroectodermal Tumor, Primitive
0.010 GeneticVariation BEFREE H3.3 G34R mutations in pediatric primitive neuroectodermal tumors of central nervous system (CNS-PNET) and pediatric glioblastomas: possible diagnostic and therapeutic implications? 23354654 2013
dbSNP: rs1200941109
rs1200941109
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C3887678
Disease:
Central Nervous System Embryonal Tumor, Not Otherwise Specified
0.010 GeneticVariation BEFREE Multiplex ligation-dependent probe amplification analysis revealed PDGFR-alpha amplification and EGFR gain in two cases and N-Myc amplification in one case of H3.3 G34R mutated CNS-PNET. 23354654 2013
dbSNP: rs1200941109
rs1200941109
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0017636
Disease:
Glioblastoma
0.010 GeneticVariation BEFREE The K27M (AAG → ATG, lysine → methionine) mutation was found in 33 glioblastomas (26 %); the G34R (GGG → AGG, glycine → arginine) was observed in 6 glioblastomas (5.5 %). 23354654 2013
dbSNP: rs1200941109
rs1200941109
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0006118
Disease:
Brain Neoplasms
0.010 GeneticVariation BEFREE In conclusion, because pediatric patients with glioblastoma and CNS-PNET are treated according to different therapeutic protocols, these findings may raise further concerns about the reliability of the histological diagnosis in the case of an undifferentiated brain tumor harbouring G34R H3.3 mutation. 23354654 2013
dbSNP: rs57961569
rs57961569
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0027819
Disease:
Neuroblastoma
0.010 GeneticVariation BEFREE Stratified analysis revealed that rs579</span>61569 GG carriers were more likely to develop neuroblastoma in the following subgroups: children older than 18 months, tumor derived from the adrenal gland, and clinical stages III + IV. 29997440 2018
dbSNP: rs57961569
rs57961569
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0700095
Disease:
Central neuroblastoma
0.010 GeneticVariation BEFREE Stratified analysis revealed that rs579</span>61569 GG carriers were more likely to develop neuroblastoma in the following subgroups: children older than 18 months, tumor derived from the adrenal gland, and clinical stages III + IV. 29997440 2018
dbSNP: rs57961569
rs57961569
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C4086165
Disease:
Childhood Neuroblastoma
0.010 GeneticVariation BEFREE Stratified analysis revealed that rs579</span>61569 GG carriers were more likely to develop neuroblastoma in the following subgroups: children older than 18 months, tumor derived from the adrenal gland, and clinical stages III + IV. 29997440 2018
dbSNP: rs57961569
rs57961569
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C1333015
Disease:
Childhood Kidney Wilms Tumor
0.010 GeneticVariation BEFREE Interestingly, in the stratification analysis, the rs57961569 was found to be associated with decreased Wilms tumor susceptibility in the children older than 18 months (AOR = 0.65, 95% CI = 0.42-1.00, P = .050). 31343784 2019
dbSNP: rs57961569
rs57961569
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0027708
Disease:
Nephroblastoma
0.010 GeneticVariation BEFREE Interestingly, in the stratification analysis, the rs57961569 was found to be associated with decreased Wilms tumor susceptibility in the children older than 18 months (AOR = 0.65, 95% CI = 0.42-1.00, P = .050). 31343784 2019
dbSNP: rs772399455
rs772399455
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0596263
Disease:
Carcinogenesis
0.010 GeneticVariation BEFREE Foxm1 transcription factor is required for the initiation of lung tumorigenesis by oncogenic Kras(G12D.). 24213573 2014
dbSNP: rs772399455
rs772399455
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE Transgenic expression of activated Kras(G12D) in mouse respiratory epithelium is sufficient to induce lung adenocarcinomas; however, transcriptional mechanisms regulated by K-Ras during the initiation of lung cancer remain poorly understood. 24213573 2014
dbSNP: rs772399455
rs772399455
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0024121
Disease:
Lung Neoplasms
0.010 GeneticVariation BEFREE Conditional deletion of Foxm1 from Kras(G12D)-expressing respiratory epithelium prevented the initiation of lung tumors in vivo. 24213573 2014
dbSNP: rs772399455
rs772399455
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.010 GeneticVariation BEFREE Transgenic expression of activated Kras(G12D) in mouse respiratory epithelium is sufficient to induce lung adenocarcinomas; however, transcriptional mechanisms regulated by K-Ras during the initiation of lung cancer remain poorly understood. 24213573 2014