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: rs398124126
rs398124126
0.882 0.160 2 237361120 splice donor variant C/T snv
Ullrich congenital muscular dystrophy 1
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2005 2009
dbSNP: rs778940391
rs778940391
1.000 0.160 2 237367167 missense variant C/T snv 1.6E-04 9.1E-05
Ullrich congenital muscular dystrophy 1
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2005 2005
dbSNP: rs80272723
rs80272723
1.000 0.160 2 237371833 missense variant C/A;T snv 1.0E-02
Ullrich congenital muscular dystrophy 1
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2005 2005
dbSNP: rs886043919
rs886043919
0.925 0.160 2 237359361 splice donor variant C/A;T snv
Ullrich congenital muscular dystrophy 1
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2008 2008
dbSNP: rs112638391
rs112638391
1.000 0.160 2 237374900 missense variant C/T snv 3.0E-03 3.0E-03
Ullrich congenital muscular dystrophy 1
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121434554
rs121434554
1.000 0.160 2 237381419 stop gained G/A snv
Ullrich congenital muscular dystrophy 1
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs398124119
rs398124119
0.882 0.160 2 237395121 stop gained G/A snv 4.4E-05 2.8E-05
Ullrich congenital muscular dystrophy 1
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs764193290
rs764193290
0.882 0.160 2 237342163 splice acceptor variant T/- del 4.0E-06
Ullrich congenital muscular dystrophy 1
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs771941724
rs771941724
1.000 0.160 2 237363366 stop gained G/A;T snv 4.0E-06; 4.0E-06
Ullrich congenital muscular dystrophy 1
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797044988
rs797044988
0.882 0.160 2 237359390 splice acceptor variant T/G snv
Ullrich congenital muscular dystrophy 1
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs886043113
rs886043113
1.000 0.160 2 237347812 stop gained G/A snv 4.1E-06
Ullrich congenital muscular dystrophy 1
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2002 2002