SACS, sacsin molecular chaperone, 26278

N. diseases: 106; N. variants: 252
Disease: Spastic Paraplegia ×
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: rs780247476
rs780247476 		0.925 0.160 13 23332970 stop gained G/A snv 1.2E-05 1.4E-05
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 3 2008 2011
dbSNP: rs1259615333
rs1259615333 		0.925 0.160 13 23340970 frameshift variant GTCT/- delins 7.0E-06
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2010 2011
dbSNP: rs1566058677
rs1566058677 		1.000 0.080 13 23332943 frameshift variant G/- del
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2010 2011
dbSNP: rs281865117
rs281865117 		0.925 0.160 13 23335032 frameshift variant A/- del 6.4E-05 1.4E-05
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2000 2001
dbSNP: rs773182375
rs773182375 		1.000 0.080 13 23336670 frameshift variant AA/- del 1.4E-05
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2010 2011
dbSNP: rs1160357920
rs1160357920 		0.925 0.160 13 23339132 missense variant C/T snv 7.0E-06
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs145766983
rs145766983 		0.925 0.160 13 23336603 stop gained G/A;T snv 1.2E-05; 4.0E-06
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1566055368
rs1566055368 		1.000 0.080 13 23330968 stop gained A/T snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1006060877
rs1006060877 		1.000 0.080 13 23354743 frameshift variant C/- del 1.4E-05
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1060503431
rs1060503431 		1.000 0.080 13 23334312 frameshift variant ACAA/- delins
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1156566314
rs1156566314 		1.000 0.080 13 23332937 stop gained C/A;T snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs767871841
rs767871841 		0.925 0.160 13 23335083 frameshift variant T/-;TT delins
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs774906736
rs774906736 		0.925 0.080 13 23332169 stop gained G/A snv 8.0E-06 1.4E-05
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0