rs869312880, REEP1

N. diseases: 5
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.
Babinski Reflex
CUI: C0034935
Disease: Babinski Reflex
11 0.882 0.120 2 86232624 splice donor variant C/T snv 0.700 0
Dysarthria
CUI: C0013362
Disease: Dysarthria
54 0.882 0.120 2 86232624 splice donor variant C/T snv 0.700 0
Spastic gait
CUI: C0231687
Disease: Spastic gait
9 0.882 0.120 2 86232624 splice donor variant C/T snv 0.700 0
Spastic Paraplegia
CUI: C0037772
Disease: Spastic Paraplegia
93 0.882 0.120 2 86232624 splice donor variant C/T snv 0.700 0
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT
CUI: C1853247
Disease: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT
13 0.882 0.120 2 86232624 splice donor variant C/T snv 0.700 0