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: rs9955120
rs9955120 		0.925 0.040 18 8622034 intron variant G/A snv 0.13
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs9955120
rs9955120 		0.925 0.040 18 8622034 intron variant G/A snv 0.13
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs143888944
rs143888944 		1.000 0.040 18 8636322 missense variant A/G snv 3.3E-04 4.1E-04
CUI: C2749929
Disease: Musician's Dystonia
Musician's Dystonia 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs143888944
rs143888944 		1.000 0.040 18 8636322 missense variant A/G snv 3.3E-04 4.1E-04
CUI: C0949445
Disease: Cervical Dystonia
Cervical Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs149427020
rs149427020 		1.000 0.040 18 8636256 missense variant G/A snv 4.5E-04 1.7E-04
CUI: C0949445
Disease: Cervical Dystonia
Cervical Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs149427020
rs149427020 		1.000 0.040 18 8636256 missense variant G/A snv 4.5E-04 1.7E-04
CUI: C2749929
Disease: Musician's Dystonia
Musician's Dystonia 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs371288995
rs371288995 		1.000 0.040 18 8636278 missense variant G/A snv 5.6E-05 4.9E-05
CUI: C2749929
Disease: Musician's Dystonia
Musician's Dystonia 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs371288995
rs371288995 		1.000 0.040 18 8636278 missense variant G/A snv 5.6E-05 4.9E-05
CUI: C0949445
Disease: Cervical Dystonia
Cervical Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017