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: rs387906701
rs387906701 		1.000 0.080 X 153934388 missense variant A/G snv
CUI: C3275447
Disease: Ogden syndrome
Ogden syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.840 1.000 7 2011 2019
dbSNP: rs863225427
rs863225427 		1.000 0.080 X 153933994 missense variant T/G snv
CUI: C3275447
Disease: Ogden syndrome
Ogden syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.810 1.000 4 2011 2019
dbSNP: rs1057519448
rs1057519448 		1.000 0.080 X 153932549 missense variant A/G snv
CUI: C3275447
Disease: Ogden syndrome
Ogden syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2017 2017
dbSNP: rs1057524031
rs1057524031 		X 153932422 missense variant G/A snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1557107462
rs1557107462 		1.000 0.080 X 153932096 missense variant G/C snv
CUI: C3275447
Disease: Ogden syndrome
Ogden syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1557107528
rs1557107528 		1.000 0.080 X 153932325 missense variant A/C snv
CUI: C3275447
Disease: Ogden syndrome
Ogden syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1557107528
rs1557107528 		1.000 0.080 X 153932325 missense variant A/C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1557107543
rs1557107543 		1.000 0.080 X 153932398 missense variant C/A snv
CUI: C3275447
Disease: Ogden syndrome
Ogden syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1569546255
rs1569546255 		1.000 0.080 X 153930200 frameshift variant TT/- delins
CUI: C3275447
Disease: Ogden syndrome
Ogden syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs587776457
rs587776457 		1.000 0.080 X 153930761 splice donor variant A/T snv
CUI: C0796016
Disease: Microphthalmia, syndromic 1
Microphthalmia, syndromic 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs587780562
rs587780562 		1.000 0.080 X 153932338 missense variant C/A snv
CUI: C3275447
Disease: Ogden syndrome
Ogden syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs587780563
rs587780563 		1.000 0.080 X 153932111 missense variant G/A snv
CUI: C3275447
Disease: Ogden syndrome
Ogden syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs797044868
rs797044868 		1.000 0.080 X 153932410 missense variant G/A snv
CUI: C3275447
Disease: Ogden syndrome
Ogden syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs878853263
rs878853263 		1.000 0.080 X 153932073 missense variant A/C;T snv
CUI: C3275447
Disease: Ogden syndrome
Ogden syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs878853264
rs878853264 		1.000 0.080 X 153932075 missense variant A/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs878853264
rs878853264 		1.000 0.080 X 153932075 missense variant A/T snv
CUI: C3275447
Disease: Ogden syndrome
Ogden syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs782618876
rs782618876 		0.925 0.080 X 153935333 missense variant G/A snv 3.4E-05 1.9E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs782618876
rs782618876 		0.925 0.080 X 153935333 missense variant G/A snv 3.4E-05 1.9E-05
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018