rs747220413, SPG11

N. diseases: 2
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 44660589 frameshift variant CTGTTACGAG/- delins 3.2E-05 0.700 1.000 1 2016 2016
Confusion
CUI: C0009676
Disease: Confusion
5 1.000 0.080 15 44660589 frameshift variant CTGTTACGAG/- delins 3.2E-05 0.700 0