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: rs199476083
rs199476083 		1.000 9 110800746 missense variant G/A snv 2.3E-04 1.7E-04
CUI: C4225368
Disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 1.000 5 2004 2014
dbSNP: rs387906803
rs387906803 		0.925 0.080 9 110767930 missense variant C/G snv
CUI: C4225368
Disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 1.000 5 2004 2014
dbSNP: rs397515450
rs397515450 		1.000 9 110800558 missense variant C/T snv
CUI: C4225368
Disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 1.000 5 2004 2014
dbSNP: rs766640370
rs766640370 		1.000 9 110787726 missense variant G/A snv 4.0E-06
CUI: C4225368
Disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 1.000 5 2004 2014
dbSNP: rs751889864
rs751889864 		0.925 0.120 9 110785664 missense variant T/A;C snv 4.0E-06; 1.6E-05
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 0
dbSNP: rs775587809
rs775587809 		0.925 0.080 9 110682708 missense variant T/A snv 1.6E-05
CUI: C4225368
Disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.700 1.000 5 2004 2014
dbSNP: rs7030683
rs7030683 		9 110672097 intron variant G/T snv 0.22
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1057518966
rs1057518966 		1.000 0.040 9 110800743 missense variant G/A snv
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1057518966
rs1057518966 		1.000 0.040 9 110800743 missense variant G/A snv
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		Eye Diseases 0.700 0
dbSNP: rs1057518966
rs1057518966 		1.000 0.040 9 110800743 missense variant G/A snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		Mental Disorders 0.700 0
dbSNP: rs1057518966
rs1057518966 		1.000 0.040 9 110800743 missense variant G/A snv
CUI: C0038450
Disease: Stridor
Stridor 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1554757237
rs1554757237 		1.000 0.080 9 110800735 stop gained G/A snv
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs200783529
rs200783529 		1.000 0.080 9 110668985 splice donor variant T/G snv 4.0E-05 3.5E-05
CUI: C1837091
Disease: MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs375737188
rs375737188 		1.000 0.080 9 110695418 missense variant G/A;T snv 8.5E-05; 4.9E-05
CUI: C1837091
Disease: MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs551423795
rs551423795 		0.925 0.080 9 110687218 missense variant A/G snv 2.4E-05 1.4E-05
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs551423795
rs551423795 		0.925 0.080 9 110687218 missense variant A/G snv 2.4E-05 1.4E-05
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs551423795
rs551423795 		0.925 0.080 9 110687218 missense variant A/G snv 2.4E-05 1.4E-05
CUI: C4225368
Disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.700 0
dbSNP: rs551423795
rs551423795 		0.925 0.080 9 110687218 missense variant A/G snv 2.4E-05 1.4E-05
CUI: C0015672
Disease: Fatigue
Fatigue 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs751889864
rs751889864 		0.925 0.120 9 110785664 missense variant T/A;C snv 4.0E-06; 1.6E-05
CUI: C0038450
Disease: Stridor
Stridor 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs751889864
rs751889864 		0.925 0.120 9 110785664 missense variant T/A;C snv 4.0E-06; 1.6E-05
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		Respiratory Tract Diseases 0.700 0
dbSNP: rs751889864
rs751889864 		0.925 0.120 9 110785664 missense variant T/A;C snv 4.0E-06; 1.6E-05
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		Eye Diseases 0.700 0
dbSNP: rs751889864
rs751889864 		0.925 0.120 9 110785664 missense variant T/A;C snv 4.0E-06; 1.6E-05
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		Mental Disorders 0.700 0
dbSNP: rs756877019
rs756877019 		1.000 9 110800760 missense variant G/C snv 4.0E-06
CUI: C0015672
Disease: Fatigue
Fatigue 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs756877019
rs756877019 		1.000 9 110800760 missense variant G/C snv 4.0E-06
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs756877019
rs756877019 		1.000 9 110800760 missense variant G/C snv 4.0E-06
CUI: C4225368
Disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.700 0