Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs75548401
rs75548401
GBA
0.882 0.160 1 155236246 missense variant G/A snv 5.9E-03 6.2E-03
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.700 1.000 20 1990 2006
dbSNP: rs75548401
rs75548401
GBA
0.882 0.160 1 155236246 missense variant G/A snv 5.9E-03 6.2E-03
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.030 1.000 3 2016 2020
dbSNP: rs75548401
rs75548401
GBA
0.882 0.160 1 155236246 missense variant G/A snv 5.9E-03 6.2E-03
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 1.000 1 2018 2018
dbSNP: rs75548401
rs75548401
GBA
0.882 0.160 1 155236246 missense variant G/A snv 5.9E-03 6.2E-03
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.010 1.000 1 2019 2019
dbSNP: rs75548401
rs75548401
GBA
0.882 0.160 1 155236246 missense variant G/A snv 5.9E-03 6.2E-03
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.010 1.000 1 2019 2019
dbSNP: rs75548401
rs75548401
GBA
0.882 0.160 1 155236246 missense variant G/A snv 5.9E-03 6.2E-03
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 1.000 1 2019 2019