rs75548401, GBA

N. diseases: 6
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.
Gaucher Disease, Type 1
CUI: C1961835
Disease: Gaucher Disease, Type 1
124 0.882 0.160 1 155236246 missense variant G/A snv 5.9E-03 6.2E-03 0.700 1.000 20 1990 2006
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
990 0.882 0.160 1 155236246 missense variant G/A snv 5.9E-03 6.2E-03 0.030 1.000 3 2016 2020
Cognition Disorders
CUI: C0009241
Disease: Cognition Disorders
47 0.882 0.160 1 155236246 missense variant G/A snv 5.9E-03 6.2E-03 0.010 1.000 1 2019 2019
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.882 0.160 1 155236246 missense variant G/A snv 5.9E-03 6.2E-03 0.010 1.000 1 2019 2019
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
121 0.882 0.160 1 155236246 missense variant G/A snv 5.9E-03 6.2E-03 0.010 1.000 1 2019 2019
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.882 0.160 1 155236246 missense variant G/A snv 5.9E-03 6.2E-03 0.010 1.000 1 2018 2018