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: rs1008642
rs1008642 		0.882 0.120 3 8733975 missense variant C/A;G;T snv 0.29
CUI: C1832567
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1008642
rs1008642 		0.882 0.120 3 8733975 missense variant C/A;G;T snv 0.29
CUI: C3280443
Disease: MYOPATHY, DISTAL, TATEYAMA TYPE
MYOPATHY, DISTAL, TATEYAMA TYPE 		0.700 0
dbSNP: rs1008642
rs1008642 		0.882 0.120 3 8733975 missense variant C/A;G;T snv 0.29
CUI: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
RIPPLING MUSCLE DISEASE 2 (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
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: 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: 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: 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: 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: 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: rs116840773
rs116840773 		0.925 0.080 3 8745548 missense variant C/A;T snv
CUI: C1853698
Disease: Rippling muscle disease
Rippling muscle disease 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs116840773
rs116840773 		0.925 0.080 3 8745548 missense variant C/A;T snv
CUI: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
RIPPLING MUSCLE DISEASE 2 (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.800 0
dbSNP: rs116840776
rs116840776 		1.000 0.040 3 8745627 missense variant C/G snv 1.4E-03 1.6E-03
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2013 2013
dbSNP: rs116840776
rs116840776 		1.000 0.040 3 8745627 missense variant C/G snv 1.4E-03 1.6E-03
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs116840777
rs116840777 		3 8745788 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2001 2001
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: rs116840778
rs116840778 		0.882 0.200 3 8733956 missense variant G/A;C snv
CUI: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
RIPPLING MUSCLE DISEASE 2 (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 14 2000 2011
dbSNP: rs116840778
rs116840778 		0.882 0.200 3 8733956 missense variant G/A;C snv
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs116840778
rs116840778 		0.882 0.200 3 8733956 missense variant G/A;C snv
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs116840778
rs116840778 		0.882 0.200 3 8733956 missense variant G/A;C snv
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2003 2003
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: rs116840778
rs116840778 		0.882 0.200 3 8733956 missense variant G/A;C snv
CUI: C3280443
Disease: MYOPATHY, DISTAL, TATEYAMA TYPE
MYOPATHY, DISTAL, TATEYAMA TYPE 		0.700 0
dbSNP: rs116840782
rs116840782 		0.925 0.080 3 8733960 missense variant C/A snv
CUI: C1853698
Disease: Rippling muscle disease
Rippling muscle disease 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs116840782
rs116840782 		0.925 0.080 3 8733960 missense variant C/A snv
CUI: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
RIPPLING MUSCLE DISEASE 2 (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 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: rs116840788
rs116840788 		0.925 0.120 3 8745542 missense variant T/A;C snv 4.0E-06
CUI: C1832567
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2004 2004