SSUH2, ssu-2 homolog, 51066

N. diseases: 7; N. variants: 35
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: rs104893714
rs104893714 		0.925 0.120 3 8745701 missense variant T/G snv
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs121909280
rs121909280 		1.000 0.080 3 8745602 missense variant C/G snv
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 6 2004 2017
dbSNP: rs116840778
rs116840778 		0.882 0.200 3 8733956 missense variant G/A;C snv
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.800 0
dbSNP: rs116840786
rs116840786 		3 8733962 missense variant C/A;T snv
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.800 0
dbSNP: rs116840789
rs116840789 		0.925 0.080 3 8745547 missense variant G/A;T snv
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 0
dbSNP: rs116840795
rs116840795 		1.000 0.120 3 8745580 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 0
dbSNP: rs140981580
rs140981580 		1.000 0.080 3 8630911 missense variant G/A;T snv 6.1E-05; 2.9E-04
CUI: C0399379
Disease: Dentin dysplasia, type 1
Dentin dysplasia, type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs116840789
rs116840789 		0.925 0.080 3 8745547 missense variant G/A;T snv
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs72546668
rs72546668 		0.807 0.200 3 8745644 missense variant C/A;T snv 4.0E-06; 2.6E-03
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs116840799
rs116840799 		1.000 0.040 3 8745599 missense variant C/G snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2004 2004
dbSNP: rs116840805
rs116840805 		0.827 0.160 3 8745725 missense variant C/T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2004 2004
dbSNP: rs116840805
rs116840805 		0.827 0.160 3 8745725 missense variant C/T snv
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2004 2004
dbSNP: rs116840778
rs116840778 		0.882 0.200 3 8733956 missense variant G/A;C snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 14 2000 2011
dbSNP: rs116840795
rs116840795 		1.000 0.120 3 8745580 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 3 2004 2017
dbSNP: rs28936686
rs28936686 		0.851 0.200 3 8745688 missense variant G/A;T snv 1.6E-04; 2.0E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 2003 2005
dbSNP: rs72546668
rs72546668 		0.807 0.200 3 8745644 missense variant C/A;T snv 4.0E-06; 2.6E-03
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.020 0.500 2 2013 2017
dbSNP: rs104893714
rs104893714 		0.925 0.120 3 8745701 missense variant T/G snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1060502318
rs1060502318 		1.000 0.120 3 8733882 frameshift variant GG/- del 7.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs778914298
rs778914298 		1.000 0.120 3 8733883 frameshift variant GAAGAGCA/- delins 3.5E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs796052171
rs796052171 		1.000 0.120 3 8733913 missense variant A/T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs72546668
rs72546668 		0.807 0.200 3 8745644 missense variant C/A;T snv 4.0E-06; 2.6E-03
CUI: C3279093
Disease: LONG QT SYNDROME 2/9, DIGENIC
LONG QT SYNDROME 2/9, DIGENIC 		0.700 0
dbSNP: rs104893714
rs104893714 		0.925 0.120 3 8745701 missense variant T/G snv
CUI: C2678485
Disease: LONG QT SYNDROME 9 (disorder)
LONG QT SYNDROME 9 (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.820 1.000 4 2006 2018
dbSNP: rs104893713
rs104893713 		1.000 0.120 3 8745834 missense variant C/G snv 8.0E-06
CUI: C2678485
Disease: LONG QT SYNDROME 9 (disorder)
LONG QT SYNDROME 9 (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 2 2006 2007
dbSNP: rs104893715
rs104893715 		1.000 0.120 3 8745664 missense variant G/A snv
CUI: C2678485
Disease: LONG QT SYNDROME 9 (disorder)
LONG QT SYNDROME 9 (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 2 2006 2007
dbSNP: rs121909282
rs121909282 		0.925 0.120 3 8745647 missense variant T/G snv 1.4E-05
CUI: C2678485
Disease: LONG QT SYNDROME 9 (disorder)
LONG QT SYNDROME 9 (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 2 2006 2007