rs750663981, 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 0.925 0.080 15 44598811 frameshift variant -/G delins 2.0E-05 6.3E-05 0.700 0
Spastic Paraplegia, Hereditary
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
41 0.925 0.080 15 44598811 frameshift variant -/G delins 2.0E-05 6.3E-05 0.700 0