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: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.800 1.000 11 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: 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 11 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 11 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 11 1991 2015
dbSNP: rs376663785
rs376663785
GLB1
0.827 0.160 3 33051989 missense variant A/C snv 1.6E-05 7.0E-06
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.800 1.000 0 2009 2011
dbSNP: rs376710410
rs376710410
GLB1
0.827 0.160 3 33065551 missense variant A/C snv 2.7E-05 5.6E-05
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.800 0
dbSNP: rs1214295886
rs1214295886
GLB1
1.000 0.120 3 33052000 missense variant T/C snv 7.0E-06
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.700 1.000 11 1991 2015
dbSNP: rs745386663
rs745386663
GLB1
0.807 0.160 3 33051956 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
Gangliosidosis, Generalized GM1, Type 3 		0.700 1.000 11 1991 2015