rs1259615333, SACS

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
CUI: C0037772
Disease: Spastic Paraplegia
93 0.925 0.160 13 23340970 frameshift variant GTCT/- delins 7.0E-06 0.700 1.000 2 2010 2011
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
CUI: C1849140
Disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
240 0.925 0.160 13 23340970 frameshift variant GTCT/- delins 7.0E-06 0.700 0