GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Disease: Lewy Body Disease ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs76763715
rs76763715 		0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		Nervous System Diseases; Mental Disorders 0.710 1.000 1 2014 2014
dbSNP: rs104886460
rs104886460 		0.776 0.160 1 155240629 splice donor variant C/A;T snv 7.6E-05
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1064651
rs1064651 		0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs75822236
rs75822236 		0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs78973108
rs78973108 		0.776 0.160 1 155237453 missense variant C/T snv 2.8E-05 4.2E-05
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs80356769
rs80356769 		0.776 0.160 1 155235772 missense variant C/A snv 3.2E-05 7.0E-06
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs80356771
rs80356771 		0.776 0.160 1 155235196 missense variant G/A;T snv 7.2E-05; 4.0E-06
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1289324472
rs1289324472 		0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs421016
rs421016 		0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs77369218
rs77369218 		0.807 0.160 1 155235726 missense variant T/A snv
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019