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: rs1564045331
rs1564045331 		0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C0022602
Disease: Actinic keratosis
Actinic keratosis 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1564045331
rs1564045331 		0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C3665596
Disease: Warts
Warts 		Infections; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1564045331
rs1564045331 		0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C0015310
Disease: Exotropia
Exotropia 		Eye Diseases; Nervous System Diseases 0.700 0
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: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue 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: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		Neoplasms 0.700 0
dbSNP: rs1564045331
rs1564045331 		0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		0.700 0
dbSNP: rs1564045331
rs1564045331 		0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C0038379
Disease: Strabismus
Strabismus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1564045331
rs1564045331 		0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C1321329
Disease: Slowed saccades
Slowed saccades 		0.700 0
dbSNP: rs1564045331
rs1564045331 		0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		Mental Disorders 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: 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: C1843369
Disease: Vertical supranuclear gaze palsy
Vertical supranuclear gaze palsy 		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: C4551584
Disease: Brain atrophy
Brain atrophy 		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: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		Skin and Connective Tissue Diseases 0.700 0