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: 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: 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: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
RIPPLING MUSCLE DISEASE 2 (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.800 0
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: 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: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
RIPPLING MUSCLE DISEASE 2 (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 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: rs116840789
rs116840789 		0.925 0.080 3 8745547 missense variant G/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: rs116840793
rs116840793 		1.000 0.080 3 8745550 missense variant G/A snv
CUI: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
RIPPLING MUSCLE DISEASE 2 (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs116840794
rs116840794 		1.000 0.080 3 8745568 missense variant A/G snv
CUI: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
RIPPLING MUSCLE DISEASE 2 (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 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: rs121909281
rs121909281 		0.925 0.120 3 8733916 missense variant G/A;C snv 4.3E-04
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 0.700 0
dbSNP: rs199476331
rs199476331 		1.000 0.080 3 8745597 inframe deletion CACCTTCAC/- delins
CUI: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
RIPPLING MUSCLE DISEASE 2 (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs28936685
rs28936685 		1.000 0.080 3 8745671 missense variant T/A;C snv 4.0E-06; 4.0E-06
CUI: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
RIPPLING MUSCLE DISEASE 2 (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs28936686
rs28936686 		0.851 0.200 3 8745688 missense variant G/A;T snv 1.6E-04; 2.0E-05
CUI: C4016724
Disease: RIPPLING MUSCLE DISEASE 2, AUTOSOMAL RECESSIVE
RIPPLING MUSCLE DISEASE 2, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs28936686
rs28936686 		0.851 0.200 3 8745688 missense variant G/A;T snv 1.6E-04; 2.0E-05
CUI: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
RIPPLING MUSCLE DISEASE 2 (disorder) 		Musculoskeletal Diseases; Nervous System 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: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		Pathological Conditions, Signs and Symptoms 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: 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 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: 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: rs116840805
rs116840805 		0.827 0.160 3 8745725 missense variant C/T snv
CUI: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
RIPPLING MUSCLE DISEASE 2 (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 12 1998 2006