rs398123012, GBA2

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 46, AUTOSOMAL RECESSIVE
CUI: C2828721
Disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
5 0.925 0.080 9 35738811 missense variant G/A snv 1.6E-05 2.8E-05 0.800 1.000 5 2013 2018
Spastic Paraplegia, Hereditary
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
41 0.925 0.080 9 35738811 missense variant G/A snv 1.6E-05 2.8E-05 0.700 1.000 1 2017 2017