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: rs119473034
rs119473034 		1.000 0.280 2 216414753 stop gained C/T snv 8.0E-06
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs119473035
rs119473035 		1.000 0.280 2 216414804 stop gained C/T snv
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs748106387
rs748106387 		0.851 0.240 2 216415427 stop gained C/A;T snv 2.8E-05
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs748106387
rs748106387 		0.851 0.240 2 216415427 stop gained C/A;T snv 2.8E-05
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs748106387
rs748106387 		0.851 0.240 2 216415427 stop gained C/A;T snv 2.8E-05
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs748106387
rs748106387 		0.851 0.240 2 216415427 stop gained C/A;T snv 2.8E-05
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.700 0
dbSNP: rs748106387
rs748106387 		0.851 0.240 2 216415427 stop gained C/A;T snv 2.8E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs748106387
rs748106387 		0.851 0.240 2 216415427 stop gained C/A;T snv 2.8E-05
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs748106387
rs748106387 		0.851 0.240 2 216415427 stop gained C/A;T snv 2.8E-05
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs748106387
rs748106387 		0.851 0.240 2 216415427 stop gained C/A;T snv 2.8E-05
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs748106387
rs748106387 		0.851 0.240 2 216415427 stop gained C/A;T snv 2.8E-05
CUI: C1846435
Disease: Disproportionate short-trunk short stature
Disproportionate short-trunk short stature 		0.700 0
dbSNP: rs761546902
rs761546902 		1.000 0.280 2 216420297 splice acceptor variant A/G snv 1.2E-04 4.2E-05
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 1.000 2 2002 2012
dbSNP: rs864309531
rs864309531 		0.882 0.400 2 216423668 stop gained G/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs864309531
rs864309531 		0.882 0.400 2 216423668 stop gained G/T snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs864309531
rs864309531 		0.882 0.400 2 216423668 stop gained G/T snv
CUI: C0040458
Disease: Unerupted tooth
Unerupted tooth 		Stomatognathic Diseases 0.700 0
dbSNP: rs864309531
rs864309531 		0.882 0.400 2 216423668 stop gained G/T snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs864309531
rs864309531 		0.882 0.400 2 216423668 stop gained G/T snv
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs766291662
rs766291662 		1.000 0.280 2 216428638 frameshift variant T/- del 5.6E-05
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 1.000 1 2002 2002
dbSNP: rs1553526162
rs1553526162 		1.000 0.280 2 216432766 inframe insertion -/CTGGGG delins
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs11686241
rs11686241 		2 216433482 intron variant A/G snv 0.21
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs119473036
rs119473036 		1.000 0.280 2 216435495 missense variant T/A;C snv
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs865906391
rs865906391 		1.000 0.280 2 216438456 missense variant C/T snv 8.0E-06
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs13411858
rs13411858 		2 216441975 intron variant T/G snv 0.23
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs119473038
rs119473038 		1.000 0.280 2 216447063 missense variant C/T snv 8.0E-06 1.5E-05
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1313658611
rs1313658611 		1.000 0.280 2 216450924 missense variant C/T snv 4.0E-06
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 1.000 3 2002 2009