Disease: SPASTIC PARAPLEGIA 55, 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: rs587776508
rs587776508 		0.882 0.040 12 123253922 frameshift variant T/- del 4.0E-06
CUI: C3539506
Disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2010 2010
dbSNP: rs397514539
rs397514539 		1.000 12 123256924 stop gained C/T snv 1.6E-05 7.0E-06
CUI: C3539506
Disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs398122365
rs398122365 		1.000 12 123256945 stop gained C/T snv
CUI: C3539506
Disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs398122972
rs398122972 		0.925 0.120 12 123256876 frameshift variant G/- del
CUI: C3539506
Disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs587777667
rs587777667 		1.000 12 123256941 frameshift variant AACAA/- delins
CUI: C3539506
Disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs587777668
rs587777668 		1.000 12 123253958 splice donor variant T/A snv
CUI: C3539506
Disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE 		0.700 0