Disease: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE ×
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: rs145555213
rs145555213 		0.925 0.160 6 5368994 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C4310750
Disease: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE 		0.800 1.000 1 2016 2016
dbSNP: rs749588235
rs749588235 		1.000 6 5369031 missense variant C/T snv 2.4E-05 3.5E-05
CUI: C4310750
Disease: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2017 2017
dbSNP: rs775690041
rs775690041 		1.000 6 5771328 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C4310750
Disease: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2015 2015
dbSNP: rs1561990390
rs1561990390 		1.000 6 5369046 missense variant A/C snv
CUI: C4310750
Disease: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs751459058
rs751459058 		0.925 6 5613185 missense variant C/T snv 1.4E-04 1.0E-04
CUI: C4310750
Disease: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE 		0.700 0