rs77369218, GBA

N. diseases: 7
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 0.807 0.160 1 155235726 missense variant T/A snv 0.800 1.000 20 1990 2006
Gaucher Disease
CUI: C0017205
Disease: Gaucher Disease
82 0.807 0.160 1 155235726 missense variant T/A snv 0.700 0
Gaucher Disease, Type 3 (disorder)
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
26 0.807 0.160 1 155235726 missense variant T/A snv 0.700 0
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.807 0.160 1 155235726 missense variant T/A snv 0.020 1.000 2 2013 2019
Cognition Disorders
CUI: C0009241
Disease: Cognition Disorders
47 0.807 0.160 1 155235726 missense variant T/A snv 0.010 1.000 1 2013 2013
Lafora Disease
CUI: C0751783
Disease: Lafora Disease
32 0.807 0.160 1 155235726 missense variant T/A snv 0.010 1.000 1 2019 2019
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
41 0.807 0.160 1 155235726 missense variant T/A snv 0.010 1.000 1 2019 2019