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
117 0.784 0.179 1 155235252 missense variant A/C,G snp 8.0E-06; 1.3E-03 0.810 1.000 16 1987 2013
Gaucher Disease, Type 2 (disorder)
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
11 0.784 0.179 1 155235252 missense variant A/C,G snp 8.0E-06; 1.3E-03 0.800 15 1987 2013
Gaucher Disease
CUI: C0017205
Disease: Gaucher Disease
31 0.784 0.179 1 155235252 missense variant A/C,G snp 8.0E-06; 1.3E-03 0.730 1.000 18 1987 2015
Gaucher Disease, Type 3 (disorder)
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
12 0.784 0.179 1 155235252 missense variant A/C,G snp 8.0E-06; 1.3E-03 0.700 15 1987 2013
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
33 0.784 0.179 1 155235252 missense variant A/C,G snp 8.0E-06; 1.3E-03 0.700 15 1987 2013
Expressionless face
CUI: C0813217
Disease: Expressionless face
1 0.784 0.179 1 155235252 missense variant A/C,G snp 8.0E-06; 1.3E-03 0.700 1 2015 2015
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
6 0.784 0.179 1 155235252 missense variant A/C,G snp 8.0E-06; 1.3E-03 0.700 1 2015 2015
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
64 0.784 0.179 1 155235252 missense variant A/C,G snp 8.0E-06; 1.3E-03 0.700 1 2015 2015
Resting Tremor
CUI: C0234379
Disease: Resting Tremor
1 0.784 0.179 1 155235252 missense variant A/C,G snp 8.0E-06; 1.3E-03 0.700 1 2015 2015
Thoracolumbar scoliosis
CUI: C0749379
Disease: Thoracolumbar scoliosis
7 0.784 0.179 1 155235252 missense variant A/C,G snp 8.0E-06; 1.3E-03 0.700 1 2015 2015
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
489 0.784 0.179 1 155235252 missense variant A/C,G snp 8.0E-06; 1.3E-03 0.010 1.000 1 2015 2015