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: rs1057517686
rs1057517686 		0.827 0.120 1 1529299 missense variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.710 1.000 1 2016 2016
dbSNP: rs1057517686
rs1057517686 		0.827 0.120 1 1529299 missense variant C/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057517686
rs1057517686 		0.827 0.120 1 1529299 missense variant C/T snv
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057517686
rs1057517686 		0.827 0.120 1 1529299 missense variant C/T snv
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057517686
rs1057517686 		0.827 0.120 1 1529299 missense variant C/T snv
CUI: C4310677
Disease: HAREL-YOON SYNDROME
HAREL-YOON SYNDROME 		0.700 0
dbSNP: rs1557458134
rs1557458134 		1.000 1 1517251 frameshift variant C/- del
CUI: C4310677
Disease: HAREL-YOON SYNDROME
HAREL-YOON SYNDROME 		0.700 0
dbSNP: rs200344678
rs200344678 		1.000 1 1534004 missense variant C/T snv 2.8E-04 2.9E-04
CUI: C4310677
Disease: HAREL-YOON SYNDROME
HAREL-YOON SYNDROME 		0.700 0
dbSNP: rs1057517686
rs1057517686 		0.827 0.120 1 1529299 missense variant C/T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1057517686
rs1057517686 		0.827 0.120 1 1529299 missense variant C/T snv
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2016 2016