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: rs1567057019
rs1567057019 		1.000 0.080 15 89629123 splice acceptor variant C/G snv
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 4 2009 2015
dbSNP: rs202195179
rs202195179 		1.000 0.080 15 89629527 stop gained G/A;C;T snv 2.0E-05; 3.2E-05; 4.0E-06
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 2011 2015
dbSNP: rs2350479
rs2350479 		15 89604356 intron variant G/A snv 0.47
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs778139192
rs778139192 		0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs8032553
rs8032553 		15 89594094 intron variant A/G;T snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs147191956
rs147191956 		1.000 0.120 15 89630403 missense variant G/A snv 4.2E-04 2.7E-04
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs778139192
rs778139192 		0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs778139192
rs778139192 		0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs778139192
rs778139192 		0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs778139192
rs778139192 		0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05
CUI: C0431384
Disease: Colpocephaly
Colpocephaly 		Nervous System Diseases 0.700 0
dbSNP: rs778139192
rs778139192 		0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs778139192
rs778139192 		0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs778139192
rs778139192 		0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs778139192
rs778139192 		0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		0.700 0
dbSNP: rs778139192
rs778139192 		0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05
CUI: C0078981
Disease: Arachnoid Cysts
Arachnoid Cysts 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs778139192
rs778139192 		0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05
CUI: C0266383
Disease: Uterine Anomalies
Uterine Anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs778139192
rs778139192 		0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs778139192
rs778139192 		0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs778139192
rs778139192 		0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		0.700 0
dbSNP: rs886039282
rs886039282 		0.882 0.280 15 89630426 missense variant T/C snv
CUI: C1846722
Disease: Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs886039282
rs886039282 		0.882 0.280 15 89630426 missense variant T/C snv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs886039282
rs886039282 		0.882 0.280 15 89630426 missense variant T/C snv
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2012 2012