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: rs199476332
rs199476332 		0.925 0.120 3 8745601 missense variant A/C snv
CUI: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
RIPPLING MUSCLE DISEASE 2 (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 12 1998 2006
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: rs116840789
rs116840789 		0.925 0.080 3 8745547 missense variant G/A;T snv
CUI: C0231528
Disease: Myalgia
Myalgia 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs116840789
rs116840789 		0.925 0.080 3 8745547 missense variant G/A;T snv
CUI: C0026821
Disease: Muscle Cramp
Muscle Cramp 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1263071018
rs1263071018 		3 8745821 missense variant G/C snv 7.0E-06
CUI: C0026821
Disease: Muscle Cramp
Muscle Cramp 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1263071018
rs1263071018 		3 8745821 missense variant G/C snv 7.0E-06
CUI: C0231528
Disease: Myalgia
Myalgia 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2000 2000
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: rs199476332
rs199476332 		0.925 0.120 3 8745601 missense variant A/C snv
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 2001 2001
dbSNP: rs28936686
rs28936686 		0.851 0.200 3 8745688 missense variant G/A;T snv 1.6E-04; 2.0E-05
CUI: C1853698
Disease: Rippling muscle disease
Rippling muscle disease 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2003 2010
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: 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: 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: 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: rs116840805
rs116840805 		0.827 0.160 3 8745725 missense variant C/T snv
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.020 1.000 2 2004 2008
dbSNP: rs116840805
rs116840805 		0.827 0.160 3 8745725 missense variant C/T snv
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 0.020 1.000 2 2004 2019
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: 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
dbSNP: rs116840799
rs116840799 		1.000 0.040 3 8745599 missense variant C/G 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 2004 2004
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: 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