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: rs769255883
rs769255883 		1.000 0.160 9 97689592 stop gained C/A;G;T snv 1.2E-05; 5.6E-05
CUI: C0037284
Disease: Skin lesion
Skin lesion 		Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1564045331
rs1564045331 		0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C0036508
Disease: Seborrheic dermatitis
Seborrheic dermatitis 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1564045331
rs1564045331 		0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs778543124
rs778543124 		0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs778543124
rs778543124 		0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05
CUI: C0036508
Disease: Seborrheic dermatitis
Seborrheic dermatitis 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1564045331
rs1564045331 		0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C0003635
Disease: Apraxias
Apraxias 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs778543124
rs778543124 		0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05
CUI: C0003635
Disease: Apraxias
Apraxias 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1170251457
rs1170251457 		9 97675556 stop gained C/T snv 7.0E-06
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1564045331
rs1564045331 		0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1564045331
rs1564045331 		0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C1843885
Disease: Progressive gait ataxia
Progressive gait ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1564045331
rs1564045331 		0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C0013362
Disease: Dysarthria
Dysarthria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1564045331
rs1564045331 		0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C1854489
Disease: Limb dysmetria
Limb dysmetria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1564045331
rs1564045331 		0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C0027066
Disease: Myoclonus
Myoclonus 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1564045331
rs1564045331 		0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1564045331
rs1564045331 		0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C0234378
Disease: Static Tremor
Static Tremor 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1564045331
rs1564045331 		0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1564045331
rs1564045331 		0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1564045331
rs1564045331 		0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1564045331
rs1564045331 		0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1564045331
rs1564045331 		0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C0751470
Disease: Palmo-Mental Reflex
Palmo-Mental Reflex 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1564045331
rs1564045331 		0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs778543124
rs778543124 		0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs778543124
rs778543124 		0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05
CUI: C0751470
Disease: Palmo-Mental Reflex
Palmo-Mental Reflex 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs778543124
rs778543124 		0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs778543124
rs778543124 		0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0