rs1317187144, GBA

N. diseases: 4
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.
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
990 0.851 0.120 1 155239889 missense variant T/C snv 4.0E-06 0.040 1.000 4 2014 2018
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.851 0.120 1 155239889 missense variant T/C snv 4.0E-06 0.010 1.000 1 2014 2014
Gaucher Disease
CUI: C0017205
Disease: Gaucher Disease
82 0.851 0.120 1 155239889 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
Gaucher Disease, Type 1
CUI: C1961835
Disease: Gaucher Disease, Type 1
124 0.851 0.120 1 155239889 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017