Source: UNIPROT

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: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		0.800 1.000 11 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 11 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 11 1991 2016
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: rs376710410
rs376710410
GLB1
0.827 0.160 3 33065551 missense variant A/C snv 2.7E-05 5.6E-05
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		0.800 0
dbSNP: rs377174858
rs377174858
GLB1
1.000 0.120 3 33053498 missense variant C/G;T snv 8.0E-06; 1.6E-05
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		0.700 1.000 11 1991 2015
dbSNP: rs572237881
rs572237881
GLB1
1.000 0.120 3 33072586 missense variant C/T snv 8.0E-06 2.1E-05
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		0.700 1.000 11 1991 2015
dbSNP: rs752177002
rs752177002
GLB1
0.925 0.120 3 33046178 missense variant A/G snv 4.0E-06
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		0.700 1.000 11 1991 2015
dbSNP: rs1172435886
rs1172435886
GLB1 ; LOC107986073
1.000 0.120 3 33016709 missense variant C/A snv 4.0E-06 7.0E-06
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		0.700 0
dbSNP: rs398123351
rs398123351
GLB1
0.882 0.160 3 32997310 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		0.700 0
dbSNP: rs746350513
rs746350513
GLB1
0.925 0.120 3 32997343 missense variant C/T snv 1.2E-05
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		0.700 0