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: rs12887734
rs12887734 		1.000 0.040 14 103580497 intron variant G/T snv 0.26
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 5 2014 2019
dbSNP: rs12887734
rs12887734 		1.000 0.040 14 103580497 intron variant G/T snv 0.26
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs35229468
rs35229468 		1.000 0.040 14 103585720 intron variant C/T snv 0.25
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs35229468
rs35229468 		1.000 0.040 14 103585720 intron variant C/T snv 0.25
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs587777784
rs587777784 		1.000 0.080 14 103571695 stop gained C/G;T snv 1.6E-05; 8.0E-06
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587777785
rs587777785 		1.000 0.080 14 103571622 splice acceptor variant G/A snv
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587777786
rs587777786 		1.000 0.080 14 103571813 missense variant T/C snv 8.0E-06
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587777787
rs587777787 		1.000 0.080 14 103574111 inframe deletion GAA/- delins
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0