Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs104893646
rs104893646
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1
0.800 GeneticVariation UNIPROT Expanding the clinical spectrum of MYCN-related Feingold syndrome. 16906565 2006
dbSNP: rs104893647
rs104893647
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1
0.800 GeneticVariation UNIPROT Expanding the clinical spectrum of MYCN-related Feingold syndrome. 16906565 2006
dbSNP: rs104893648
rs104893648
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1
0.800 GeneticVariation UNIPROT Expanding the clinical spectrum of MYCN-related Feingold syndrome. 16906565 2006
dbSNP: rs104893646
rs104893646
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1
0.800 GeneticVariation UNIPROT MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. 15821734 2005
dbSNP: rs104893647
rs104893647
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1
0.800 GeneticVariation UNIPROT MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. 15821734 2005
dbSNP: rs104893648
rs104893648
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1
0.800 GeneticVariation UNIPROT MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. 15821734 2005
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
T 0.800 GeneticVariation CLINVAR
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: rs754137452
rs754137452
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1
T 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in MYCN-related Feingold syndrome. 18470948 2008
dbSNP: rs759103701
rs759103701
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1
T 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in MYCN-related Feingold syndrome. 18470948 2008
dbSNP: rs759103701
rs759103701
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C1861028
Disease:
Esophageal atresia with or without tracheoesophageal fistula
T 0.700 CausalMutation CLINVAR MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. 15821734 2005
dbSNP: rs759103701
rs759103701
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C0423112
Disease:
Short palpebral fissure
T 0.700 CausalMutation CLINVAR MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. 15821734 2005
dbSNP: rs759103701
rs759103701
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C1846950
Disease:
Short middle phalanx of finger
T 0.700 CausalMutation CLINVAR MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. 15821734 2005
dbSNP: rs759103701
rs759103701
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1
T 0.700 CausalMutation CLINVAR MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. 15821734 2005
dbSNP: rs104893648
rs104893648
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C0014850
Disease:
Esophageal Atresia
T 0.700 GeneticVariation CLINVAR
dbSNP: rs104893648
rs104893648
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551563
Disease:
Microcephaly (physical finding)
T 0.700 GeneticVariation CLINVAR
dbSNP: rs104893648
rs104893648
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C1861028
Disease:
Esophageal atresia with or without tracheoesophageal fistula
T 0.700 GeneticVariation CLINVAR
dbSNP: rs113994115
rs113994115
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1
T 0.700 CausalMutation CLINVAR