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: 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
dbSNP: rs772399455
rs772399455 		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) 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs779000620
rs779000620 		1.000 0.080 2 15942288 missense variant C/G snv 4.2E-06 7.0E-06
CUI: C0014850
Disease: Esophageal Atresia
Esophageal Atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs922324159
rs922324159 		0.827 0.040 2 15941962 5 prime UTR variant G/A snv 2.4E-04
CUI: C4289690
Disease: Diffuse Glioma
Diffuse Glioma 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs922324159
rs922324159 		0.827 0.040 2 15941962 5 prime UTR variant G/A snv 2.4E-04
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs922324159
rs922324159 		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 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs922324159
rs922324159 		0.827 0.040 2 15941962 5 prime UTR variant G/A snv 2.4E-04
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs922324159
rs922324159 		0.827 0.040 2 15941962 5 prime UTR variant G/A snv 2.4E-04
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs9653226
rs9653226 		0.882 0.080 2 15939632 intron variant C/T snv 0.54
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 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: rs9653226
rs9653226 		0.882 0.080 2 15939632 intron variant C/T snv 0.54
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs104893648
rs104893648 		0.882 0.320 2 15945883 missense variant G/A;T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
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: rs104893648
rs104893648 		0.882 0.320 2 15945883 missense variant G/A;T snv
CUI: C0014850
Disease: Esophageal Atresia
Esophageal Atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
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: rs1553370260
rs1553370260 		0.925 0.320 2 15942129 frameshift variant -/CGCT delins
CUI: C1859455
Disease: Small anterior fontanelle
Small anterior fontanelle 		0.700 0
dbSNP: rs1553370260
rs1553370260 		0.925 0.320 2 15942129 frameshift variant -/CGCT delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1553370260
rs1553370260 		0.925 0.320 2 15942129 frameshift variant -/CGCT delins
CUI: C0266174
Disease: Duodenal atresia
Duodenal atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0