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: rs137852798
rs137852798 		1.000 2 174753570 missense variant G/A;C;T snv 1.6E-05
CUI: C4084823
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL 		0.800 1.000 5 1995 2006
dbSNP: rs137852799
rs137852799 		1.000 2 174754233 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.0E-05
CUI: C4084823
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL 		0.800 1.000 5 1995 2006
dbSNP: rs137852800
rs137852800 		1.000 2 174750127 missense variant G/A snv
CUI: C4084823
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL 		0.800 1.000 5 1995 2006
dbSNP: rs137852801
rs137852801 		0.925 0.120 2 174754242 missense variant C/T snv
CUI: C4084823
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL 		0.800 1.000 5 1995 2006
dbSNP: rs137852802
rs137852802 		1.000 2 174750082 missense variant C/A snv
CUI: C4084823
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL 		0.800 1.000 5 1995 2006
dbSNP: rs137852803
rs137852803 		1.000 2 174750143 missense variant C/A;G;T snv 2.8E-05; 4.0E-06; 8.0E-06
CUI: C4084823
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL 		0.800 1.000 5 1995 2006
dbSNP: rs137852808
rs137852808 		1.000 2 174748184 missense variant G/A;C snv 8.0E-06
CUI: C4084823
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL 		0.800 1.000 5 1995 2006
dbSNP: rs137852804
rs137852804 		1.000 2 174750035 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C4225405
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL 		0.800 1.000 3 1999 2004
dbSNP: rs137852805
rs137852805 		1.000 2 174753524 missense variant A/C snv 4.0E-06
CUI: C4225405
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL 		0.800 1.000 3 1999 2004
dbSNP: rs137852806
rs137852806 		1.000 2 174750122 missense variant A/G snv
CUI: C4225405
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL 		0.800 1.000 3 1999 2004
dbSNP: rs137852807
rs137852807 		1.000 2 174754305 missense variant C/G;T snv 1.6E-05
CUI: C4225405
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL 		0.800 1.000 3 1999 2004
dbSNP: rs137852809
rs137852809 		1.000 0.120 2 174753595 missense variant C/A;T snv 4.0E-06; 2.4E-05
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 1 2008 2008
dbSNP: rs137852803
rs137852803 		1.000 2 174750143 missense variant C/A;G;T snv 2.8E-05; 4.0E-06; 8.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 4 2004 2014
dbSNP: rs137852801
rs137852801 		0.925 0.120 2 174754242 missense variant C/T snv
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 3 1982 1997
dbSNP: rs768407867
rs768407867 		0.925 0.160 2 174748177 missense variant C/T snv 4.4E-05 3.5E-05
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 2 2013 2017
dbSNP: rs187076367
rs187076367 		2 174772186 intron variant T/A snv 2.1E-03
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs2600683
rs2600683 		1.000 0.040 2 174765747 intron variant G/C snv 0.82
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2600685
rs2600685 		1.000 0.040 2 174762320 intron variant T/C snv 0.46
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs545520806
rs545520806 		1.000 0.200 2 174753594 synonymous variant G/A snv 4.0E-06
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs935863
rs935863 		1.000 0.040 2 174772073 non coding transcript exon variant A/G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs483353046
rs483353046 		1.000 2 174753544 missense variant G/A;T snv
CUI: C4084823
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL 		0.700 0
dbSNP: rs768407867
rs768407867 		0.925 0.160 2 174748177 missense variant C/T snv 4.4E-05 3.5E-05
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 0
dbSNP: rs768407867
rs768407867 		0.925 0.160 2 174748177 missense variant C/T snv 4.4E-05 3.5E-05
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs16862847
rs16862847 		1.000 0.120 2 174764872 intron variant T/C snv 0.14
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		Neoplasms; Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3755486
rs3755486 		0.882 0.080 2 174767158 intron variant C/T snv 0.36
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2012 2012