Source: BEFREE

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: rs1289324472
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.100 0.962 26 1998 2019
dbSNP: rs1289324472
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 0.950 20 2004 2019
dbSNP: rs1289324472
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.040 1.000 4 2003 2010
dbSNP: rs1289324472
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.020 1.000 2 2014 2017
dbSNP: rs1289324472
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05
CUI: C0497327
Disease: Dementia
Dementia 		0.020 1.000 2 2014 2017
dbSNP: rs1289324472
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.020 1.000 2 2014 2014
dbSNP: rs1289324472
rs1289324472
GBA
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.020 1.000 2 2013 2016
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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: C0040822
Disease: Tremor
Tremor 		0.010 1.000 1 2014 2014