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: 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: rs759103701
rs759103701 		0.925 0.320 2 15945666 stop gained C/G;T snv 4.0E-06
CUI: C1861028
Disease: Esophageal atresia with or without tracheoesophageal fistula
Esophageal atresia with or without tracheoesophageal fistula 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 1 2005 2005
dbSNP: rs104893648
rs104893648 		0.882 0.320 2 15945883 missense variant G/A;T snv
CUI: C1861028
Disease: Esophageal atresia with or without tracheoesophageal fistula
Esophageal atresia with or without tracheoesophageal fistula 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs104893646
rs104893646 		1.000 0.320 2 15945880 missense variant G/A snv
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 0.800 1.000 3 2005 2008
dbSNP: rs104893648
rs104893648 		0.882 0.320 2 15945883 missense variant G/A;T snv
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 0.800 1.000 3 2005 2008
dbSNP: rs104893647
rs104893647 		1.000 0.320 2 15945879 missense variant C/A snv
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 0.800 1.000 2 2005 2006
dbSNP: rs759103701
rs759103701 		0.925 0.320 2 15945666 stop gained C/G;T snv 4.0E-06
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 1.000 2 2005 2008
dbSNP: rs754137452
rs754137452 		1.000 0.320 2 15945819 stop gained C/A;T snv 4.0E-06; 4.0E-06
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 1.000 1 2008 2008
dbSNP: rs113994115
rs113994115 		1.000 0.320 2 15942281 stop gained G/T snv
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: rs121913666
rs121913666 		1.000 0.320 2 15945847 missense variant G/A snv
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: rs121913667
rs121913667 		1.000 0.320 2 15942295 stop gained G/A snv
CUI: C0796068
Disease: Oculodigitoesophagoduodenal syndrome
Oculodigitoesophagoduodenal syndrome 		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: rs1553370260
rs1553370260 		0.925 0.320 2 15942129 frameshift variant -/CGCT 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: 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: 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: 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: 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: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
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: 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: 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: rs9653226
rs9653226 		0.882 0.080 2 15939632 intron variant C/T snv 0.54
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1057519919
rs1057519919 		0.851 0.160 2 15942195 missense variant C/T snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016