DOK7, docking protein 7, 285489

N. diseases: 108; N. variants: 35
Disease: Congenital myasthenic syndrome ib ×
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: rs761899995
rs761899995 		0.925 0.120 4 3493119 frameshift variant -/G delins
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 4 2006 2016
dbSNP: rs606231129
rs606231129 		0.925 0.120 4 3493243 frameshift variant C/-;CC delins
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 2006 2012
dbSNP: rs606231133
rs606231133 		0.925 0.120 4 3493359 frameshift variant C/-;CC delins
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2006 2008
dbSNP: rs775583136
rs775583136 		1.000 0.080 4 3476523 synonymous variant C/A;T snv 2.0E-05; 8.0E-06
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs797045040
rs797045040 		1.000 0.080 4 3493461 frameshift variant -/TCCAGTCTGT delins
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2016 2016