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
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: 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
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 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
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 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
T 0.800 GeneticVariation 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: 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: rs121913666
rs121913666
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1
A 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
dbSNP: rs1553370963
rs1553370963
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1
GC 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: 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: 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