Disease: SPASTIC PARAPLEGIA 52, 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: rs200440467
rs200440467 		0.925 0.080 14 31072968 stop gained C/A;T snv 4.0E-06; 1.2E-04
CUI: C3279743
Disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs377679827
rs377679827 		1.000 14 31066336 splice donor variant T/G snv 4.0E-06 2.1E-05
CUI: C3279743
Disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs387906970
rs387906970 		1.000 14 31066320 stop gained C/A;G;T snv 9.7E-04; 2.4E-05
CUI: C3279743
Disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs876661295
rs876661295 		1.000 14 31066333 splice region variant AAGT/- delins
CUI: C3279743
Disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE 		0.700 0