MYO5A, myosin VA, 4644

N. diseases: 82; N. variants: 4
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: rs1114167290
rs1114167290 		0.882 0.080 15 52340235 missense variant G/C snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1114167290
rs1114167290 		0.882 0.080 15 52340235 missense variant G/C snv
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1114167290
rs1114167290 		0.882 0.080 15 52340235 missense variant G/C snv
CUI: C4024710
Disease: Cerebellar cortical atrophy
Cerebellar cortical atrophy 		0.700 0
dbSNP: rs1114167290
rs1114167290 		0.882 0.080 15 52340235 missense variant G/C snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1114167290
rs1114167290 		0.882 0.080 15 52340235 missense variant G/C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs764371254
rs764371254 		1.000 0.240 15 52376435 stop gained G/A snv 8.0E-06 7.0E-06
CUI: C1859194
Disease: GRISCELLI SYNDROME, TYPE 1
GRISCELLI SYNDROME, TYPE 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs769021352
rs769021352 		1.000 0.240 15 52383090 splice donor variant C/A;T snv 4.0E-06
CUI: C1859194
Disease: GRISCELLI SYNDROME, TYPE 1
GRISCELLI SYNDROME, TYPE 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1058219
rs1058219 		1.000 0.320 15 52351367 missense variant G/A snv 0.16 0.15
CUI: C0398794
Disease: Hypopigmentation-immunodeficiency disease
Hypopigmentation-immunodeficiency disease 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 < 0.001 1 2000 2000