Disease: SPASTIC PARAPLEGIA 56, 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: rs397514513
rs397514513 		0.882 0.080 4 107945426 missense variant A/T snv
CUI: C3539507
Disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE 		0.800 1.000 1 2012 2012
dbSNP: rs397514514
rs397514514 		1.000 4 107947388 missense variant A/G snv
CUI: C3539507
Disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE 		0.800 1.000 1 2012 2012
dbSNP: rs397514515
rs397514515 		1.000 4 107945263 missense variant T/C snv
CUI: C3539507
Disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE 		0.800 1.000 1 2012 2012
dbSNP: rs141431913
rs141431913 		1.000 4 107950250 missense variant C/T snv 8.4E-06 3.5E-05
CUI: C3539507
Disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2012 2012
dbSNP: rs767024102
rs767024102 		1.000 4 107947458 frameshift variant GA/- delins 1.2E-05 3.5E-05
CUI: C3539507
Disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2012 2012
dbSNP: rs1553937522
rs1553937522 		1.000 4 107945422 stop gained C/T snv
CUI: C3539507
Disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs761575210
rs761575210 		1.000 4 107932095 missense variant C/A;G;T snv 9.2E-06; 4.6E-06
CUI: C3539507
Disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs772400670
rs772400670 		0.925 0.080 4 107947417 stop gained C/A;G;T snv 8.0E-06; 1.2E-05; 1.2E-05
CUI: C3539507
Disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE 		0.700 0