Source: BEFREE

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: rs1325406157
rs1325406157
GLB1 ; LOC107986073
1.000 0.080 3 33018542 missense variant T/C snv 4.0E-06
CUI: C0268233
Disease: GALACTOSIALIDOSIS
GALACTOSIALIDOSIS 		0.030 1.000 3 1998 2003
dbSNP: rs72555390
rs72555390
GLB1
0.807 0.160 3 33072637 missense variant A/G;T snv
CUI: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1 		0.020 1.000 2 1992 2014
dbSNP: rs1220047339
rs1220047339
GLB1 ; LOC107986073
3 33018492 missense variant G/A snv
CUI: C1857231
Disease: LACTASE PERSISTENCE
LACTASE PERSISTENCE 		0.010 1.000 1 2008 2008
dbSNP: rs1356418704
rs1356418704
GLB1
1.000 0.160 3 32997112 missense variant G/A snv
CUI: C0268228
Disease: Neuraminidase 1 deficiency
Neuraminidase 1 deficiency 		0.010 1.000 1 2001 2001
dbSNP: rs1402467081
rs1402467081
GLB1 ; LOC107986073
1.000 0.120 3 33021598 missense variant G/A snv 4.0E-06
CUI: C0265264
Disease: Holt-Oram syndrome
Holt-Oram syndrome 		0.010 1.000 1 2006 2006
dbSNP: rs1553612220
rs1553612220
GLB1
1.000 0.120 3 33068968 missense variant T/C snv
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.710 1.000 1 1991 2009
dbSNP: rs192732174
rs192732174
GLB1
0.827 0.160 3 33068245 missense variant G/A;T snv 4.0E-05; 3.6E-05
CUI: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1 		0.710 1.000 1 2000 2015
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 1 1991 2015
dbSNP: rs28934886
rs28934886
GLB1 ; LOC107986073
0.882 0.160 3 33016818 missense variant C/T snv 1.2E-05
CUI: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1 		0.010 1.000 1 1992 1992
dbSNP: rs28934886
rs28934886
GLB1 ; LOC107986073
0.882 0.160 3 33016818 missense variant C/T snv 1.2E-05
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.010 1.000 1 2001 2001
dbSNP: rs72555363
rs72555363
GLB1
0.925 0.160 3 33014263 missense variant C/A snv
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.710 1.000 1 1991 2009
dbSNP: rs72555363
rs72555363
GLB1
0.925 0.160 3 33014263 missense variant C/A snv
CUI: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1 		0.010 1.000 1 1997 1997
dbSNP: rs72555368
rs72555368
GLB1
0.827 0.160 3 33014292 missense variant T/C snv 1.2E-05
CUI: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1 		0.010 1.000 1 2001 2001
dbSNP: rs72555369
rs72555369
GLB1 ; LOC107986073
0.925 0.160 3 33021576 missense variant T/C;G snv
CUI: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1 		0.010 1.000 1 2001 2001
dbSNP: rs72555390
rs72555390
GLB1
0.807 0.160 3 33072637 missense variant A/G;T snv
CUI: C0268233
Disease: GALACTOSIALIDOSIS
GALACTOSIALIDOSIS 		0.010 1.000 1 2003 2003
dbSNP: rs72555392
rs72555392
GLB1
0.807 0.200 3 33072613 missense variant C/T snv 3.6E-05
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		0.010 1.000 1 2006 2006
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 1 1991 2015
dbSNP: rs72555392
rs72555392
GLB1
0.807 0.200 3 33072613 missense variant C/T snv 3.6E-05
CUI: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1 		0.710 1.000 1 1999 2007
dbSNP: rs73826339
rs73826339
GLB1
1.000 0.120 3 33014196 missense variant T/A;C snv 4.7E-02
CUI: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1 		0.010 1.000 1 2000 2000
dbSNP: rs754790691
rs754790691
GLB1
1.000 0.080 3 33068890 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C0268233
Disease: GALACTOSIALIDOSIS
GALACTOSIALIDOSIS 		0.010 1.000 1 2008 2008
dbSNP: rs755581184
rs755581184
GLB1
1.000 0.120 3 32997206 missense variant G/A;T snv 8.0E-06
CUI: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1 		0.010 1.000 1 2007 2007
dbSNP: rs761887139
rs761887139
GLB1
0.925 0.160 3 33051997 missense variant G/C snv 4.0E-06
CUI: C0265264
Disease: Holt-Oram syndrome
Holt-Oram syndrome 		0.010 1.000 1 2006 2006
dbSNP: rs761887139
rs761887139
GLB1
0.925 0.160 3 33051997 missense variant G/C snv 4.0E-06
CUI: C0278512
Disease: Metastatic osteosarcoma
Metastatic osteosarcoma 		0.010 1.000 1 2006 2006
dbSNP: rs772155434
rs772155434
GLB1
3 33058188 missense variant C/T snv 4.0E-06
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		0.010 1.000 1 2007 2007
dbSNP: rs376663785
rs376663785
GLB1
0.827 0.160 3 33051989 missense variant A/C snv 1.6E-05 7.0E-06
CUI: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1 		0.710 1.000 1 2001 2012