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: 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: 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
dbSNP: rs1057519919
rs1057519919 		0.851 0.160 2 15942195 missense variant C/T snv
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519919
rs1057519919 		0.851 0.160 2 15942195 missense variant C/T snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 1 2016 2016
dbSNP: rs1057519919
rs1057519919 		0.851 0.160 2 15942195 missense variant C/T snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519919
rs1057519919 		0.851 0.160 2 15942195 missense variant C/T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.700 1.000 1 2016 2016
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: 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: rs759103701
rs759103701 		0.925 0.320 2 15945666 stop gained C/G;T snv 4.0E-06
CUI: C1846950
Disease: Short middle phalanx of finger
Short middle phalanx of finger 		0.700 1.000 1 2005 2005
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: rs759103701
rs759103701 		0.925 0.320 2 15945666 stop gained C/G;T snv 4.0E-06
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		0.700 1.000 1 2005 2005
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