Disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder) ×
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: rs762271422
rs762271422 		1.000 0.080 10 95606919 missense variant G/A;C snv 8.0E-06; 5.2E-05
CUI: C1849115
Disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0