rs768136171, SPG7

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, Hereditary
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
41 0.925 0.080 16 89529489 frameshift variant TG/- delins 8.0E-06 2.1E-05 0.700 1.000 1 1998 1998
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
38 0.925 0.080 16 89529489 frameshift variant TG/- delins 8.0E-06 2.1E-05 0.700 0