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: rs118203994
rs118203994 		1.000 0.080 4 3485545 stop gained G/A;C snv 4.1E-06; 1.2E-05
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 5 2006 2012
dbSNP: rs758131044
rs758131044 		1.000 0.080 4 3476491 missense variant G/A snv 4.0E-05 1.4E-05
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 5 2006 2012
dbSNP: rs606231128
rs606231128 		0.882 0.120 4 3493106 frameshift variant -/TGCC 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 11 1990 2014
dbSNP: rs606231131
rs606231131 		0.925 0.120 4 3493316 frameshift variant -/CTGG 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 7 2006 2012
dbSNP: rs1286619522
rs1286619522 		1.000 0.080 4 3476522 missense variant G/A snv 4.0E-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: rs1429428597
rs1429428597 		1.000 0.080 4 3476356 missense variant G/A snv
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: rs1560224831
rs1560224831 		0.925 0.120 4 3489765 frameshift variant -/TCTC 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 5 2006 2014
dbSNP: rs571769859
rs571769859 		1.000 0.080 4 3476425 missense variant G/A;C snv 4.4E-05; 4.0E-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: 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: rs770987150
rs770987150 		0.925 0.120 4 3476447 missense variant C/T snv 2.4E-05 2.8E-05
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: rs781227659
rs781227659 		1.000 0.080 4 3476506 missense variant G/A snv 1.2E-05 1.4E-05
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: rs940346413
rs940346413 		1.000 0.080 4 3473535 missense variant C/G;T snv 4.0E-06; 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 1.000 5 2006 2012
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
dbSNP: rs118203995
rs118203995 		1.000 0.080 4 3485607 stop gained C/G;T snv 4.1E-06; 8.2E-06
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: 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: rs1553846331
rs1553846331 		0.925 0.120 4 3473504 missense variant C/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: rs1553847993
rs1553847993 		1.000 0.080 4 3485618 protein altering variant CCCCACCAAGGGCC/GGACGGTTCTA 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
dbSNP: rs1553850100
rs1553850100 		1.000 0.080 4 3493006 frameshift variant -/GCCACTGGCAGCCACTCCT 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
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
dbSNP: rs606231132
rs606231132 		1.000 0.080 4 3493125 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 0
dbSNP: rs6811423
rs6811423 		1.000 0.080 4 3492873 missense variant A/G snv 0.23 0.18
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0