Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs922324159
rs922324159
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C4289690
Disease:
Diffuse Glioma 		0.010 GeneticVariation BEFREE N-myc(T58A) cerebellar and brain stem NSCs generated medulloblastoma/primitive neuroectodermal tumors, whereas forebrain NSCs developed diffuse glioma. 22624711 2012
dbSNP: rs922324159
rs922324159
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0025149
Disease:
Medulloblastoma 		0.010 GeneticVariation BEFREE N-myc(T58A) cerebellar and brain stem NSCs generated medulloblastoma/primitive neuroectodermal tumors, whereas forebrain NSCs developed diffuse glioma. 22624711 2012
dbSNP: rs922324159
rs922324159
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0278510
Disease:
Childhood Medulloblastoma 		0.010 GeneticVariation BEFREE N-myc(T58A) cerebellar and brain stem NSCs generated medulloblastoma/primitive neuroectodermal tumors, whereas forebrain NSCs developed diffuse glioma. 22624711 2012
dbSNP: rs922324159
rs922324159
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0206663
Disease:
Neuroectodermal Tumor, Primitive 		0.010 GeneticVariation BEFREE N-myc(T58A) cerebellar and brain stem NSCs generated medulloblastoma/primitive neuroectodermal tumors, whereas forebrain NSCs developed diffuse glioma. 22624711 2012
dbSNP: rs922324159
rs922324159
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0278876
Disease:
Adult Medulloblastoma 		0.010 GeneticVariation BEFREE N-myc(T58A) cerebellar and brain stem NSCs generated medulloblastoma/primitive neuroectodermal tumors, whereas forebrain NSCs developed diffuse glioma. 22624711 2012
dbSNP: rs9653226
rs9653226
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0700095
Disease:
Central neuroblastoma 		0.010 GeneticVariation BEFREE The results showed that only rs57961569 G>A was associated with neuroblastoma risk (GA vs GG: adjusted odds ratio =0.76, 95% confidence interval =0.60-0.98, <i>P</i>=0.033), while the other 3 SNPs were not (rs9653226 T>C, rs13034994 A>G, and rs60226897 G>A). 29997440 2018
dbSNP: rs9653226
rs9653226
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C4086165
Disease:
Childhood Neuroblastoma 		0.010 GeneticVariation BEFREE The results showed that only rs57961569 G>A was associated with neuroblastoma risk (GA vs GG: adjusted odds ratio =0.76, 95% confidence interval =0.60-0.98, <i>P</i>=0.033), while the other 3 SNPs were not (rs9653226 T>C, rs13034994 A>G, and rs60226897 G>A). 29997440 2018
dbSNP: rs9653226
rs9653226
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0027819
Disease:
Neuroblastoma 		0.010 GeneticVariation BEFREE The results showed that only rs57961569 G>A was associated with neuroblastoma risk (GA vs GG: adjusted odds ratio =0.76, 95% confidence interval =0.60-0.98, <i>P</i>=0.033), while the other 3 SNPs were not (rs9653226 T>C, rs13034994 A>G, and rs60226897 G>A). 29997440 2018
dbSNP: rs104893646
rs104893646
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1 		A 0.800 CausalMutation CLINVAR Genotype-phenotype correlations in MYCN-related Feingold syndrome. 18470948 2008
dbSNP: rs104893647
rs104893647
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs104893648
rs104893648
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1 		A 0.800 CausalMutation CLINVAR Genotype-phenotype correlations in MYCN-related Feingold syndrome. 18470948 2008
dbSNP: rs121913666
rs121913666
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1 		A 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: rs367962377
rs367962377
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs367962377
rs367962377
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551563
Disease:
Microcephaly (physical finding) 		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: rs1553370918
rs1553370918
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C0025990
Disease:
Micrognathism 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1553370918
rs1553370918
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C0039075
Disease:
Syndactyly 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1553370918
rs1553370918
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1553370918
rs1553370918
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C0349588
Disease:
Short stature 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1553370918
rs1553370918
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C0014866
Disease:
Esophageal Stenosis 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1553370918
rs1553370918
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551563
Disease:
Microcephaly (physical finding) 		C 0.700 CausalMutation CLINVAR