rs797046003, 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.
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 1.000 0.080 16 89529575 splice donor variant -/T delins 0.700 1.000 1 2017 2017
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
38 1.000 0.080 16 89529575 splice donor variant -/T delins 0.700 0