Disease: SPASTIC PARAPLEGIA 49, 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: rs751970061
rs751970061 		1.000 14 102452403 frameshift variant T/- del 8.1E-06
CUI: C3542549
Disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE 		0.700 1.000 3 2012 2016
dbSNP: rs750908377
rs750908377 		1.000 14 102432030 frameshift variant T/- del 1.5E-04 7.7E-05
CUI: C3542549
Disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2016 2016
dbSNP: rs1555451465
rs1555451465 		1.000 14 102434385 frameshift variant C/- del
CUI: C3542549
Disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1567314662
rs1567314662 		1.000 14 102376934 splice donor variant AGGTGAGCCTTGCTTTG/- delins
CUI: C3542549
Disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE 		0.700 0