rs1553400002, SPAST

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 4, autosomal dominant
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
101 1.000 0.080 2 32089580 frameshift variant G/- delins 0.700 1.000 1 2002 2002