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: 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: 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: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		0.700 1.000 1 2005 2005
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: 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: 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: 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: 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: 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: 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
dbSNP: rs1553370918
rs1553370918 		0.851 0.360 2 15945602 frameshift variant TG/- delins
CUI: C0039075
Disease: Syndactyly
Syndactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1553370918
rs1553370918 		0.851 0.360 2 15945602 frameshift variant TG/- delins
CUI: C0025990
Disease: Micrognathism
Micrognathism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
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: 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: 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: 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: 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: 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