rs312262779, SPG11

N. diseases: 1
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Spastic paraplegia 11, autosomal recessive
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
134 1.000 0.080 15 44570551 frameshift variant C/- delins 0.700 1.000 1 2007 2007