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: rs141659620
rs141659620
0.882 0.160 16 89531961 missense variant G/A;C snv 8.3E-04; 8.0E-06
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 16 1998 2016
dbSNP: rs61755320
rs61755320
0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 8 2006 2016
dbSNP: rs121918357
rs121918357
1.000 0.080 16 89553932 missense variant G/A;C snv
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 5 1998 2016
dbSNP: rs267607085
rs267607085
1.000 0.080 16 89550579 missense variant G/C snv
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 5 1998 2016
dbSNP: rs61755320
rs61755320
0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.720 1.000 15 2006 2018
dbSNP: rs61755320
rs61755320
0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0004134
Disease: Ataxia
Ataxia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.720 1.000 3 2016 2019
dbSNP: rs61755320
rs61755320
0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.710 1.000 1 2012 2012
dbSNP: rs149474131
rs149474131
16 89513008 stop gained C/A;G;T snv 4.0E-06; 5.7E-05; 4.9E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 13 2012 2017
dbSNP: rs61755320
rs61755320
0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 13 2012 2017
dbSNP: rs768823392
rs768823392
0.827 0.120 16 89546657 coding sequence variant GGCGGGAGA/- delins 2.6E-04 4.2E-04
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 13 2012 2017
dbSNP: rs768823392
rs768823392
0.827 0.120 16 89546657 coding sequence variant GGCGGGAGA/- delins 2.6E-04 4.2E-04
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 9 2001 2016
dbSNP: rs760818649
rs760818649
0.925 0.080 16 89531963 frameshift variant C/-;CC delins
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 6 2008 2015
dbSNP: rs760818649
rs760818649
0.925 0.080 16 89531963 frameshift variant C/-;CC delins
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 6 2008 2017
dbSNP: rs752623413
rs752623413
1.000 0.080 16 89556933 missense variant T/C snv 5.2E-05 5.6E-05
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 5 2008 2016
dbSNP: rs121918358
rs121918358
0.882 0.160 16 89510539 stop gained T/A snv 4.2E-04 1.8E-04
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 4 2008 2016
dbSNP: rs72547551
rs72547551
0.882 0.160 16 89550545 missense variant C/T snv 3.6E-05 1.5E-04
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 4 2004 2016
dbSNP: rs369227537
rs369227537
1.000 0.080 16 89550502 stop gained A/T snv 1.4E-04 9.8E-05
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 2012 2016
dbSNP: rs1229749476
rs1229749476
1.000 0.080 16 89548001 splice acceptor variant A/G snv
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2011 2012
dbSNP: rs568556987
rs568556987
1.000 0.080 16 89553792 splice acceptor variant A/G snv 1.6E-05; 4.0E-06
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2011 2012
dbSNP: rs121918358
rs121918358
0.882 0.160 16 89510539 stop gained T/A snv 4.2E-04 1.8E-04
CUI: C0004134
Disease: Ataxia
Ataxia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs121918358
rs121918358
0.882 0.160 16 89510539 stop gained T/A snv 4.2E-04 1.8E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus
Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs121918358
rs121918358
0.882 0.160 16 89510539 stop gained T/A snv 4.2E-04 1.8E-04
CUI: C0013362
Disease: Dysarthria
Dysarthria
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs121918358
rs121918358
0.882 0.160 16 89510539 stop gained T/A snv 4.2E-04 1.8E-04
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs141659620
rs141659620
0.882 0.160 16 89531961 missense variant G/A;C snv 8.3E-04; 8.0E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus
Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs141659620
rs141659620
0.882 0.160 16 89531961 missense variant G/A;C snv 8.3E-04; 8.0E-06
CUI: C0013362
Disease: Dysarthria
Dysarthria
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016