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: rs747503698
rs747503698 		1.000 0.080 16 89553952 frameshift variant -/T delins 4.4E-05 3.5E-05
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs797046003
rs797046003 		1.000 0.080 16 89529575 splice donor variant -/T delins
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		Nutritional and Metabolic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs797046003
rs797046003 		1.000 0.080 16 89529575 splice donor variant -/T delins
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs4785574
rs4785574 		16 89502467 intron variant A/C;G snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs770661102
rs770661102 		0.882 0.120 16 89556924 missense variant A/C;G snv 4.4E-05
CUI: C3711370
Disease: Spastic Paraplegia Type 7
Spastic Paraplegia Type 7 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs770661102
rs770661102 		0.882 0.120 16 89556924 missense variant A/C;G snv 4.4E-05
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs770661102
rs770661102 		0.882 0.120 16 89556924 missense variant A/C;G snv 4.4E-05
CUI: C0154682
Disease: Lateral Sclerosis
Lateral Sclerosis 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1229749476
rs1229749476 		1.000 0.080 16 89548001 splice acceptor variant A/G snv
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
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
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2011 2012
dbSNP: rs2292954
rs2292954 		1.000 0.040 16 89546715 missense variant A/G snv 0.15 0.13
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs382745
rs382745 		16 89537178 3 prime UTR variant A/G snv 0.47
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1567934754
rs1567934754 		1.000 0.080 16 89554484 splice acceptor variant A/G snv
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs369227537
rs369227537 		1.000 0.080 16 89550502 stop gained A/T snv 1.4E-04 9.8E-05
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 2012 2016
dbSNP: rs369227537
rs369227537 		1.000 0.080 16 89550502 stop gained A/T snv 1.4E-04 9.8E-05
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		Nutritional and Metabolic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs372981030
rs372981030 		1.000 0.080 16 89550505 stop gained A/T snv 1.6E-05 7.0E-06
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs760818649
rs760818649 		0.925 0.080 16 89531963 frameshift variant C/-;CC delins
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
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: 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: 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: 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: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 8 2006 2016
dbSNP: rs72547551
rs72547551 		0.882 0.160 16 89550545 missense variant C/T snv 3.6E-05 1.5E-04
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 4 2004 2016
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: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.020 1.000 2 2006 2013
dbSNP: rs61755320
rs61755320 		0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.020 1.000 2 2019 2019