rs1064651, GBA

N. diseases: 13
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Gaucher Disease, Type 1
CUI: C1961835
Disease: Gaucher Disease, Type 1
124 0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04 0.800 1.000 9 1990 2010
Gaucher Disease, Type Iiic
CUI: C1856476
Disease: Gaucher Disease, Type Iiic
19 0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04 0.800 0
Gaucher Disease
CUI: C0017205
Disease: Gaucher Disease
82 0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04 0.760 1.000 7 1995 2019
GAUCHER DISEASE, PERINATAL LETHAL
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
18 0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04 0.700 0
Gaucher Disease, Type 2 (disorder)
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
34 0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04 0.700 0
Gaucher Disease, Type 3 (disorder)
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
26 0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04 0.700 0
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
41 0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04 0.700 0
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
76 0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04 0.700 0
Heart valve disease
CUI: C0018824
Disease: Heart valve disease
5 0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04 0.010 1.000 1 2003 2003
Mucopolysaccharidoses
CUI: C0026703
Disease: Mucopolysaccharidoses
7 0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04 0.010 1.000 1 2003 2003
Oculomotor apraxia
CUI: C3489733
Disease: Oculomotor apraxia
14 0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04 0.010 1.000 1 2006 2006
Oculovestibuloauditory syndrome
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
3 0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04 0.010 1.000 1 2006 2006
Valvular disease
CUI: C3258293
Disease: Valvular disease
1 0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04 0.010 1.000 1 2001 2001