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: rs192732174
rs192732174
GLB1
0.827 0.160 3 33068245 missense variant G/A;T snv 4.0E-05; 3.6E-05
CUI: C0268271
Disease: Gangliosidosis, Generalized GM1, Type 1 (disorder)
Gangliosidosis, Generalized GM1, Type 1 (disorder) 		0.810 1.000 27 1991 2015
dbSNP: rs72555370
rs72555370
GLB1
0.925 0.120 3 33072587 missense variant G/A snv 2.8E-05 2.8E-05
CUI: C0268271
Disease: Gangliosidosis, Generalized GM1, Type 1 (disorder)
Gangliosidosis, Generalized GM1, Type 1 (disorder) 		0.810 1.000 20 1991 2015
dbSNP: rs72555392
rs72555392
GLB1
0.807 0.200 3 33072613 missense variant C/T snv 3.6E-05
CUI: C0268271
Disease: Gangliosidosis, Generalized GM1, Type 1 (disorder)
Gangliosidosis, Generalized GM1, Type 1 (disorder) 		0.810 1.000 19 1991 2015
dbSNP: rs72555391
rs72555391
GLB1 ; LOC107986073
0.882 0.160 3 33016743 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0268271
Disease: Gangliosidosis, Generalized GM1, Type 1 (disorder)
Gangliosidosis, Generalized GM1, Type 1 (disorder) 		0.810 1.000 18 1991 2015
dbSNP: rs72555391
rs72555391
GLB1 ; LOC107986073
0.882 0.160 3 33016743 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.810 1.000 16 1991 2015
dbSNP: rs72555360
rs72555360
GLB1
0.807 0.280 3 33058221 missense variant G/A snv 4.4E-05 6.3E-05
CUI: C0268271
Disease: Gangliosidosis, Generalized GM1, Type 1 (disorder)
Gangliosidosis, Generalized GM1, Type 1 (disorder) 		0.800 1.000 26 1991 2016
dbSNP: rs1553610553
rs1553610553
GLB1
0.851 0.160 3 33053518 missense variant C/G snv
CUI: C0268271
Disease: Gangliosidosis, Generalized GM1, Type 1 (disorder)
Gangliosidosis, Generalized GM1, Type 1 (disorder) 		0.800 1.000 24 1991 2017
dbSNP: rs72555361
rs72555361
GLB1
0.851 0.160 3 33051766 missense variant T/C snv 4.0E-06
CUI: C0268271
Disease: Gangliosidosis, Generalized GM1, Type 1 (disorder)
Gangliosidosis, Generalized GM1, Type 1 (disorder) 		0.800 1.000 22 1991 2015
dbSNP: rs749980306
rs749980306
GLB1
0.827 0.160 3 33046150 missense variant C/A;G snv 4.0E-06 7.0E-06
CUI: C0268271
Disease: Gangliosidosis, Generalized GM1, Type 1 (disorder)
Gangliosidosis, Generalized GM1, Type 1 (disorder) 		0.800 1.000 22 1991 2015
dbSNP: rs192732174
rs192732174
GLB1
0.827 0.160 3 33068245 missense variant G/A;T snv 4.0E-05; 3.6E-05
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.800 1.000 21 1991 2015
dbSNP: rs192732174
rs192732174
GLB1
0.827 0.160 3 33068245 missense variant G/A;T snv 4.0E-05; 3.6E-05
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		0.800 1.000 21 1991 2015
dbSNP: rs371582179
rs371582179
GLB1
0.827 0.280 3 33014057 missense variant T/C snv 3.6E-05 6.3E-05
CUI: C0268271
Disease: Gangliosidosis, Generalized GM1, Type 1 (disorder)
Gangliosidosis, Generalized GM1, Type 1 (disorder) 		0.800 1.000 21 1991 2015
dbSNP: rs72555358
rs72555358
GLB1
0.851 0.160 3 33072644 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0268271
Disease: Gangliosidosis, Generalized GM1, Type 1 (disorder)
Gangliosidosis, Generalized GM1, Type 1 (disorder) 		0.800 1.000 21 1991 2015
dbSNP: rs780724173
rs780724173
GLB1 ; LOC107986073
0.851 0.160 3 33018474 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0268271
Disease: Gangliosidosis, Generalized GM1, Type 1 (disorder)
Gangliosidosis, Generalized GM1, Type 1 (disorder) 		0.800 1.000 20 1991 2015
dbSNP: rs72555360
rs72555360
GLB1
0.807 0.280 3 33058221 missense variant G/A snv 4.4E-05 6.3E-05
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		0.800 1.000 19 1991 2016
dbSNP: rs72555366
rs72555366
GLB1
0.827 0.160 3 33058200 missense variant G/A snv 4.4E-05 1.2E-04
CUI: C0268271
Disease: Gangliosidosis, Generalized GM1, Type 1 (disorder)
Gangliosidosis, Generalized GM1, Type 1 (disorder) 		0.800 1.000 19 1991 2015
dbSNP: rs28934274
rs28934274
GLB1
1.000 0.120 3 33068849 missense variant C/T snv 8.0E-06
CUI: C0268271
Disease: Gangliosidosis, Generalized GM1, Type 1 (disorder)
Gangliosidosis, Generalized GM1, Type 1 (disorder) 		0.800 1.000 18 1991 2015
dbSNP: rs72555358
rs72555358
GLB1
0.851 0.160 3 33072644 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		0.800 1.000 15 1991 2015
dbSNP: rs72555390
rs72555390
GLB1
0.807 0.160 3 33072637 missense variant A/G;T snv
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.800 1.000 15 1991 2015
dbSNP: rs72555367
rs72555367
GLB1 ; LOC107986073
0.851 0.160 3 33018482 missense variant C/T snv
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.800 1.000 13 1991 2015
dbSNP: rs72555393
rs72555393
GLB1
0.851 0.160 3 33072544 missense variant G/A snv 5.2E-05 1.4E-05
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.800 1.000 13 1991 2015
dbSNP: rs72555368
rs72555368
GLB1
0.827 0.160 3 33014292 missense variant T/C snv 1.2E-05
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.800 1.000 12 1991 2015
dbSNP: rs28934886
rs28934886
GLB1 ; LOC107986073
0.882 0.160 3 33016818 missense variant C/T snv 1.2E-05
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.800 1.000 11 1991 2015
dbSNP: rs72555370
rs72555370
GLB1
0.925 0.120 3 33072587 missense variant G/A snv 2.8E-05 2.8E-05
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		0.800 1.000 11 1991 2015
dbSNP: rs72555367
rs72555367
GLB1 ; LOC107986073
0.851 0.160 3 33018482 missense variant C/T snv
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.800 1.000 10 1991 2013