rs121918263, REEP1

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 31, AUTOSOMAL DOMINANT
CUI: C1853247
Disease: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT
13 1.000 0.080 2 86252037 stop gained G/A snv 0.700 1.000 2 2009 2018
Paraparesis, Spastic
CUI: C0037771
Disease: Paraparesis, Spastic
37 1.000 0.080 2 86252037 stop gained G/A snv 0.010 1.000 1 2009 2009