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: rs748309520
rs748309520 		0.882 0.160 16 89531903 splice acceptor variant G/A snv 1.6E-05 7.0E-06
CUI: C0013362
Disease: Dysarthria
Dysarthria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs752989523
rs752989523 		0.882 0.160 16 89553853 stop gained G/A;C snv 8.0E-06
CUI: C0013362
Disease: Dysarthria
Dysarthria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs879253797
rs879253797 		0.882 0.160 16 89556954 missense variant C/T snv 1.4E-05
CUI: C0013362
Disease: Dysarthria
Dysarthria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1217391623
rs1217391623 		0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06
CUI: C0013362
Disease: Dysarthria
Dysarthria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs768823392
rs768823392 		0.827 0.120 16 89546657 coding sequence variant GGCGGGAGA/- delins 2.6E-04 4.2E-04
CUI: C0013362
Disease: Dysarthria
Dysarthria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1217391623
rs1217391623 		0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06
CUI: C0234979
Disease: Dysdiadochokinesis
Dysdiadochokinesis 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0234979
Disease: Dysdiadochokinesis
Dysdiadochokinesis 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1217391623
rs1217391623 		0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs768823392
rs768823392 		0.827 0.120 16 89546657 coding sequence variant GGCGGGAGA/- delins 2.6E-04 4.2E-04
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1217391623
rs1217391623 		0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0556280
Disease: Gross motor impairment
Gross motor impairment 		0.700 0
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0239831
Disease: Hand muscle weakness
Hand muscle weakness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.020 1.000 2 2006 2013
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C1832597
Disease: Herniation of intervertebral nuclei
Herniation of intervertebral nuclei 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.700 0
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C4025573
Disease: Increased muscle fatiguability
Increased muscle fatiguability 		0.700 0
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0158266
Disease: Intervertebral Disc Degeneration
Intervertebral Disc Degeneration 		Musculoskeletal Diseases 0.700 0
dbSNP: rs770661102
rs770661102 		0.882 0.120 16 89556924 missense variant A/C;G snv 4.4E-05
CUI: C0154682
Disease: Lateral Sclerosis
Lateral Sclerosis 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C1854489
Disease: Limb dysmetria
Limb dysmetria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs382745
rs382745 		16 89537178 3 prime UTR variant A/G snv 0.47
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2012 2012
dbSNP: rs768823392
rs768823392 		0.827 0.120 16 89546657 coding sequence variant GGCGGGAGA/- delins 2.6E-04 4.2E-04
CUI: C0233794
Disease: Memory impairment
Memory impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs2292954
rs2292954 		1.000 0.040 16 89546715 missense variant A/G snv 0.15 0.13
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019