rs312262791, 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 44564540 splice donor variant ACTT/-;ACTTACTT delins 0.700 0