Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553370918
rs1553370918 		0.851 0.360 2 15945602 frameshift variant TG/- delins
CUI: C4551774
Disease: FEINGOLD SYNDROME 1
FEINGOLD SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553370918
rs1553370918 		0.851 0.360 2 15945602 frameshift variant TG/- delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1553370918
rs1553370918 		0.851 0.360 2 15945602 frameshift variant TG/- delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1553370918
rs1553370918 		0.851 0.360 2 15945602 frameshift variant TG/- delins
CUI: C0014866
Disease: Esophageal Stenosis
Esophageal Stenosis 		Digestive System Diseases 0.700 0
dbSNP: rs1553370963
rs1553370963 		1.000 0.320 2 15945762 frameshift variant -/C delins
CUI: C4551774
Disease: FEINGOLD SYNDROME 1
FEINGOLD SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1558534266
rs1558534266 		1.000 0.320 2 15942686 frameshift variant -/C delins
CUI: C4551774
Disease: FEINGOLD SYNDROME 1
FEINGOLD SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs367962377
rs367962377 		1.000 0.320 2 15945716 stop gained C/A;T snv 8.0E-06 2.1E-05
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs367962377
rs367962377 		1.000 0.320 2 15945716 stop gained C/A;T snv 8.0E-06 2.1E-05
CUI: C4551774
Disease: FEINGOLD SYNDROME 1
FEINGOLD SYNDROME 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1200941109
rs1200941109 		0.882 0.040 2 15940679 frameshift variant C/-;CC delins
CUI: C0206663
Disease: Neuroectodermal Tumor, Primitive
Neuroectodermal Tumor, Primitive 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1200941109
rs1200941109 		0.882 0.040 2 15940679 frameshift variant C/-;CC delins
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1200941109
rs1200941109 		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 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1200941109
rs1200941109 		0.882 0.040 2 15940679 frameshift variant C/-;CC delins
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs57961569
rs57961569 		0.827 0.200 2 15939643 intron variant G/A;C snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs57961569
rs57961569 		0.827 0.200 2 15939643 intron variant G/A;C snv
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs57961569
rs57961569 		0.827 0.200 2 15939643 intron variant G/A;C snv
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs57961569
rs57961569 		0.827 0.200 2 15939643 intron variant G/A;C snv
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs57961569
rs57961569 		0.827 0.200 2 15939643 intron variant G/A;C snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs60226897
rs60226897 		0.882 0.080 2 15947252 downstream gene variant G/A snv 4.3E-02
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs60226897
rs60226897 		0.882 0.080 2 15947252 downstream gene variant G/A snv 4.3E-02
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs60226897
rs60226897 		0.882 0.080 2 15947252 downstream gene variant G/A snv 4.3E-02
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs772399455
rs772399455 		0.851 0.080 2 15942096 missense variant G/A;C snv 4.0E-06
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs772399455
rs772399455 		0.851 0.080 2 15942096 missense variant G/A;C snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs772399455
rs772399455 		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 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs772399455
rs772399455 		0.851 0.080 2 15942096 missense variant G/A;C snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs772399455
rs772399455 		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 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014