Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1200941109
rs1200941109
MYCN ; MYCNOS
0.882 0.040 2 15940679 frameshift variant C/-;CC delins
CUI: C0206663
Disease: Neuroectodermal Tumor, Primitive
Neuroectodermal Tumor, Primitive 		0.010 1.000 1 2013 2013
dbSNP: rs1200941109
rs1200941109
MYCN ; MYCNOS
0.882 0.040 2 15940679 frameshift variant C/-;CC delins
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.010 1.000 1 2013 2013
dbSNP: rs1200941109
rs1200941109
MYCN ; MYCNOS
0.882 0.040 2 15940679 frameshift variant C/-;CC delins
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2013 2013
dbSNP: rs1200941109
rs1200941109
MYCN ; MYCNOS
0.882 0.040 2 15940679 frameshift variant C/-;CC delins
CUI: C3887678
Disease: Central Nervous System Embryonal Tumor, Not Otherwise Specified
Central Nervous System Embryonal Tumor, Not Otherwise Specified 		0.010 1.000 1 2013 2013
dbSNP: rs57961569
rs57961569
MYCN ; MYCNOS
0.827 0.200 2 15939643 intron variant G/A;C snv
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs57961569
rs57961569
MYCN ; MYCNOS
0.827 0.200 2 15939643 intron variant G/A;C snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs57961569
rs57961569
MYCN ; MYCNOS
0.827 0.200 2 15939643 intron variant G/A;C snv
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs57961569
rs57961569
MYCN ; MYCNOS
0.827 0.200 2 15939643 intron variant G/A;C snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs57961569
rs57961569
MYCN ; MYCNOS
0.827 0.200 2 15939643 intron variant G/A;C snv
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor 		0.010 1.000 1 2019 2019
dbSNP: rs60226897
rs60226897
MYCN
0.882 0.080 2 15947252 downstream gene variant G/A snv 4.3E-02
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs60226897
rs60226897
MYCN
0.882 0.080 2 15947252 downstream gene variant G/A snv 4.3E-02
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs60226897
rs60226897
MYCN
0.882 0.080 2 15947252 downstream gene variant G/A snv 4.3E-02
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs772399455
rs772399455
MYCN ; MYCNOS
0.851 0.080 2 15942096 missense variant G/A;C snv 4.0E-06
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		0.010 1.000 1 2014 2014
dbSNP: rs772399455
rs772399455
MYCN ; MYCNOS
0.851 0.080 2 15942096 missense variant G/A;C snv 4.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2014 2014
dbSNP: rs772399455
rs772399455
MYCN ; MYCNOS
0.851 0.080 2 15942096 missense variant G/A;C snv 4.0E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2014 2014
dbSNP: rs772399455
rs772399455
MYCN ; MYCNOS
0.851 0.080 2 15942096 missense variant G/A;C snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2014 2014
dbSNP: rs772399455
rs772399455
MYCN ; MYCNOS
0.851 0.080 2 15942096 missense variant G/A;C snv 4.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 1.000 1 2014 2014
dbSNP: rs772399455
rs772399455
MYCN ; MYCNOS
0.851 0.080 2 15942096 missense variant G/A;C snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2014 2014
dbSNP: rs779000620
rs779000620
MYCN ; MYCNOS
1.000 0.080 2 15942288 missense variant C/G snv 4.2E-06 7.0E-06
CUI: C0014850
Disease: Esophageal Atresia
Esophageal Atresia 		0.010 1.000 1 2006 2006
dbSNP: rs922324159
rs922324159
MYCN ; MYCNOS
0.827 0.040 2 15941962 5 prime UTR variant G/A snv 2.4E-04
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		0.010 1.000 1 2012 2012
dbSNP: rs922324159
rs922324159
MYCN ; MYCNOS
0.827 0.040 2 15941962 5 prime UTR variant G/A snv 2.4E-04
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.010 1.000 1 2012 2012
dbSNP: rs922324159
rs922324159
MYCN ; MYCNOS
0.827 0.040 2 15941962 5 prime UTR variant G/A snv 2.4E-04
CUI: C0206663
Disease: Neuroectodermal Tumor, Primitive
Neuroectodermal Tumor, Primitive 		0.010 1.000 1 2012 2012
dbSNP: rs922324159
rs922324159
MYCN ; MYCNOS
0.827 0.040 2 15941962 5 prime UTR variant G/A snv 2.4E-04
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.010 1.000 1 2012 2012
dbSNP: rs922324159
rs922324159
MYCN ; MYCNOS
0.827 0.040 2 15941962 5 prime UTR variant G/A snv 2.4E-04
CUI: C4289690
Disease: Diffuse Glioma
Diffuse Glioma 		0.010 1.000 1 2012 2012
dbSNP: rs9653226
rs9653226
MYCN ; MYCNOS
0.882 0.080 2 15939632 intron variant C/T snv 0.54
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 1.000 1 2018 2018