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: rs1064648
rs1064648
GBA
1.000 0.040 1 155236366 missense variant C/T snv 6.0E-05 2.1E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2009 2009
dbSNP: rs1064651
rs1064651
GBA
0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		0.010 1.000 1 2006 2006
dbSNP: rs1064651
rs1064651
GBA
0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses 		0.010 1.000 1 2003 2003
dbSNP: rs1064651
rs1064651
GBA
0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04
CUI: C3258293
Disease: Valvular disease
Valvular disease 		0.010 1.000 1 2001 2001
dbSNP: rs1064651
rs1064651
GBA
0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		0.010 1.000 1 2006 2006
dbSNP: rs1064651
rs1064651
GBA
0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04
CUI: C0018824
Disease: Heart valve disease
Heart valve disease 		0.010 1.000 1 2003 2003
dbSNP: rs1161552095
rs1161552095
GBA
0.925 0.120 1 155236307 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.010 < 0.001 1 2012 2012
dbSNP: rs1178732315
rs1178732315
GBA
0.882 0.240 1 155236381 missense variant A/G snv 1.4E-05
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma 		0.010 1.000 1 2017 2017
dbSNP: rs1191051168
rs1191051168
GBA
1.000 0.040 1 155237408 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2011 2011
dbSNP: rs121908313
rs121908313
GBA
0.925 0.120 1 155237470 missense variant G/T snv
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.010 1.000 1 2004 2004
dbSNP: rs1289324472
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05
CUI: C0040822
Disease: Tremor
Tremor 		0.010 1.000 1 2014 2014
dbSNP: rs1289324472
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.010 1.000 1 2008 2008
dbSNP: rs1289324472
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05
CUI: C0005940
Disease: Bone Diseases
Bone Diseases 		0.010 1.000 1 1998 1998
dbSNP: rs1289324472
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2008 2008
dbSNP: rs1289324472
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.010 1.000 1 2008 2008
dbSNP: rs1289324472
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2009 2009
dbSNP: rs1289324472
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.010 1.000 1 2008 2008
dbSNP: rs1289324472
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		0.010 1.000 1 2009 2009
dbSNP: rs1289324472
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05
CUI: C0600031
Disease: Congenital absence of spleen
Congenital absence of spleen 		0.010 1.000 1 2003 2003
dbSNP: rs1289324472
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05
CUI: C0473527
Disease: Hypoalphalipoproteinemias
Hypoalphalipoproteinemias 		0.010 1.000 1 2002 2002
dbSNP: rs1289324472
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.010 1.000 1 2014 2014
dbSNP: rs1289324472
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.010 1.000 1 2018 2018
dbSNP: rs1289324472
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2009 2009
dbSNP: rs1289324472
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2009 2009
dbSNP: rs1296507371
rs1296507371
GBA
0.925 0.120 1 155237433 missense variant G/T snv 4.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2018 2018