rs104886460, GBA

N. diseases: 8
Source: INFERRED ×
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
0.776 0.160 1 155240629 splice donor variant C/A;T snv 7.6E-05 0.700 1.000 5 1992 2014
Gaucher Disease
CUI: C0017205
Disease: Gaucher Disease
0.776 0.160 1 155240629 splice donor variant C/A;T snv 7.6E-05 0.700 1.000 2 1992 2012
GAUCHER DISEASE, PERINATAL LETHAL
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
0.776 0.160 1 155240629 splice donor variant C/A;T snv 7.6E-05 0.700 0
Gaucher Disease, Type 2 (disorder)
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
0.776 0.160 1 155240629 splice donor variant C/A;T snv 7.6E-05 0.700 0
Gaucher Disease, Type 3 (disorder)
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
0.776 0.160 1 155240629 splice donor variant C/A;T snv 7.6E-05 0.700 0
Gaucher Disease, Type Iiic
CUI: C1856476
Disease: Gaucher Disease, Type Iiic
0.776 0.160 1 155240629 splice donor variant C/A;T snv 7.6E-05 0.700 0
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
0.776 0.160 1 155240629 splice donor variant C/A;T snv 7.6E-05 0.700 0
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.776 0.160 1 155240629 splice donor variant C/A;T snv 7.6E-05 0.700 0