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: rs1390943
rs1390943 		8 20224379 intron variant T/G snv 0.42
CUI: C2698399
Disease: Myeloperoxidase Measurement
Myeloperoxidase Measurement 		0.800 1.000 1 2013 2013
dbSNP: rs730882177
rs730882177 		0.925 0.120 8 20220320 missense variant G/C snv
CUI: C4225321
Disease: ZIMMERMANN-LABAND SYNDROME 2
ZIMMERMANN-LABAND SYNDROME 2 		0.800 0
dbSNP: rs794729667
rs794729667 		1.000 0.200 8 20220382 stop gained C/T snv
CUI: C2675730
Disease: Deafness, Congenital, and Onychodystrophy, Autosomal Dominant
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.710 1.000 1 2019 2019
dbSNP: rs1106634
rs1106634 		0.851 0.080 8 20208538 intron variant G/A;C;T snv 0.18
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2011 2011
dbSNP: rs1135401772
rs1135401772 		1.000 8 20216454 missense variant G/C snv
CUI: C4225321
Disease: ZIMMERMANN-LABAND SYNDROME 2
ZIMMERMANN-LABAND SYNDROME 2 		0.700 0
dbSNP: rs1135401772
rs1135401772 		1.000 8 20216454 missense variant G/C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs730882177
rs730882177 		0.925 0.120 8 20220320 missense variant G/C snv
CUI: C4551773
Disease: ZIMMERMANN-LABAND SYNDROME 1
ZIMMERMANN-LABAND SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1106634
rs1106634 		0.851 0.080 8 20208538 intron variant G/A;C;T snv 0.18
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
dbSNP: rs1106634
rs1106634 		0.851 0.080 8 20208538 intron variant G/A;C;T snv 0.18
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs1106634
rs1106634 		0.851 0.080 8 20208538 intron variant G/A;C;T snv 0.18
CUI: C1842981
Disease: NEUROTICISM
NEUROTICISM 		Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
dbSNP: rs1106634
rs1106634 		0.851 0.080 8 20208538 intron variant G/A;C;T snv 0.18
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016