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: rs753355844
rs753355844 		0.882 0.120 8 43193790 missense variant G/A snv 1.6E-05
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 5 2006 2010
dbSNP: rs756310864
rs756310864 		0.925 0.120 8 43197848 missense variant C/T snv 1.3E-04 3.5E-05
CUI: C0086649
Disease: MPS III C
MPS III C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 4 2006 2010
dbSNP: rs756310864
rs756310864 		0.925 0.120 8 43197848 missense variant C/T snv 1.3E-04 3.5E-05
CUI: C4225287
Disease: RETINITIS PIGMENTOSA 73
RETINITIS PIGMENTOSA 73 		0.700 1.000 4 2006 2010
dbSNP: rs766835582
rs766835582 		1.000 0.120 8 43182163 missense variant G/A snv 3.6E-05 3.5E-05
CUI: C0086649
Disease: MPS III C
MPS III C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 3 2006 2009
dbSNP: rs121908282
rs121908282 		0.925 0.120 8 43173740 missense variant C/T snv 2.8E-05 1.4E-05
CUI: C4225287
Disease: RETINITIS PIGMENTOSA 73
RETINITIS PIGMENTOSA 73 		0.700 1.000 2 2009 2010
dbSNP: rs121908282
rs121908282 		0.925 0.120 8 43173740 missense variant C/T snv 2.8E-05 1.4E-05
CUI: C0086649
Disease: MPS III C
MPS III C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 2009 2010
dbSNP: rs112029032
rs112029032 		0.882 0.160 8 43199504 missense variant G/A snv 4.1E-03 3.6E-03
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2006 2006
dbSNP: rs112029032
rs112029032 		0.882 0.160 8 43199504 missense variant G/A snv 4.1E-03 3.6E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 1.000 1 2015 2015
dbSNP: rs121908282
rs121908282 		0.925 0.120 8 43173740 missense variant C/T snv 2.8E-05 1.4E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2006 2006
dbSNP: rs754875934
rs754875934 		1.000 0.080 8 43158710 missense variant A/T snv 2.1E-05 2.1E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1085307112
rs1085307112 		1.000 0.120 8 43173728 missense variant A/C snv
CUI: C0086649
Disease: MPS III C
MPS III C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs112029032
rs112029032 		0.882 0.160 8 43199504 missense variant G/A snv 4.1E-03 3.6E-03
CUI: C0086649
Disease: MPS III C
MPS III C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs112029032
rs112029032 		0.882 0.160 8 43199504 missense variant G/A snv 4.1E-03 3.6E-03
CUI: C4225287
Disease: RETINITIS PIGMENTOSA 73
RETINITIS PIGMENTOSA 73 		0.800 0
dbSNP: rs121908284
rs121908284 		1.000 0.120 8 43193824 missense variant T/A snv 7.0E-06
CUI: C0086649
Disease: MPS III C
MPS III C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121908286
rs121908286 		1.000 0.120 8 43197682 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0086649
Disease: MPS III C
MPS III C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C1836003
Disease: Facial diplegia
Facial diplegia 		Infections; Nervous System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0020505
Disease: Hyperphagia
Hyperphagia 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0233794
Disease: Memory impairment
Memory impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0019572
Disease: Hirsutism
Hirsutism 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C1848453
Disease: Poor motor coordination
Poor motor coordination 		0.700 0
dbSNP: rs370717845
rs370717845 		0.763 0.320 8 43161462 missense variant G/A snv
CUI: C4023491
Disease: Interictal epileptiform activity
Interictal epileptiform activity 		0.700 0