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: rs752670374
rs752670374 		1.000 18 9117904 splice region variant GTAA/- delins 4.0E-06 7.0E-06
CUI: C4748760
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 		0.700 0
dbSNP: rs772188600
rs772188600 		1.000 18 9134198 frameshift variant -/G ins 3.2E-05 1.4E-05
CUI: C4748760
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 		0.700 0
dbSNP: rs1156044
rs1156044 		1.000 0.040 18 9102142 upstream gene variant G/A;C;T snv
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs775174756
rs775174756 		1.000 0.040 18 9126877 missense variant A/G snv 2.8E-05 1.4E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs906807
rs906807 		1.000 0.040 18 9117869 missense variant T/C;G snv 0.80; 4.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 1998 1998