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: rs763233743
rs763233743 		1.000 0.080 4 3463382 stop gained G/A;C;T snv 3.2E-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 5 2006 2012
dbSNP: rs1349476281
rs1349476281 		1.000 0.080 4 3473637 splice donor variant G/T snv 1.1E-05
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs863223277
rs863223277 		1.000 0.080 4 3463505 splice acceptor variant G/T snv
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045528
rs797045528 		1.000 0.080 4 3485602 frameshift variant T/- del 1.2E-05
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs606231130
rs606231130 		1.000 0.080 4 3485552 frameshift variant TCCT/- delins
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0