GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Disease: Parkinson 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: rs2230288
rs2230288 		0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.790 1.000 10 2012 2019
dbSNP: rs421016
rs421016 		0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.100 0.962 26 2009 2020
dbSNP: rs76763715
rs76763715 		0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.100 0.955 22 2004 2020
dbSNP: rs1289324472
rs1289324472 		0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.100 0.950 20 2004 2019
dbSNP: rs1317187144
rs1317187144 		0.851 0.120 1 155239889 missense variant T/C snv 4.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.040 1.000 4 2014 2018
dbSNP: rs439898
rs439898 		0.882 0.120 1 155238630 missense variant G/A snv 2.8E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.040 1.000 4 2009 2016
dbSNP: rs75548401
rs75548401 		0.882 0.160 1 155236246 missense variant G/A snv 5.9E-03 6.2E-03
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.030 1.000 3 2016 2020
dbSNP: rs75822236
rs75822236 		0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.020 1.000 2 2004 2018
dbSNP: rs1064648
rs1064648 		1.000 0.040 1 155236366 missense variant C/T snv 6.0E-05 2.1E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1191051168
rs1191051168 		1.000 0.040 1 155237408 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1296507371
rs1296507371 		0.925 0.120 1 155237433 missense variant G/T snv 4.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs374117599
rs374117599 		1.000 0.040 1 155237439 missense variant G/A snv 3.6E-05 2.1E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs374306700
rs374306700 		1.000 0.040 1 155236367 missense variant G/A snv 1.2E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs387906315
rs387906315 		0.790 0.160 1 155240660 frameshift variant -/C delins 5.2E-05 5.6E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs80356773
rs80356773 		0.925 0.080 1 155235002 missense variant C/T snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2020 2020