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: 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: 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: 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: 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: 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: rs201807974
rs201807974
GLB1
1.000 0.120 3 32997296 missense variant G/A snv 1.2E-04 1.1E-04
CUI: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1 		0.010 1.000 1 2007 2007
dbSNP: rs34421970
rs34421970
GLB1 ; LOC107986073
0.925 0.120 3 33018489 missense variant G/A snv 1.1E-02 9.4E-03
CUI: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1 		0.010 1.000 1 2003 2003
dbSNP: rs34421970
rs34421970
GLB1 ; LOC107986073
0.925 0.120 3 33018489 missense variant G/A snv 1.1E-02 9.4E-03
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 2 		0.010 1.000 1 2003 2003
dbSNP: rs35289681
rs35289681
GLB1
1.000 0.120 3 33068891 missense variant G/A snv 1.8E-02 1.6E-02
CUI: C0268271
Disease: Gangliosidosis, Generalized GM1, Type 1 (disorder)
Gangliosidosis, Generalized GM1, Type 1 (disorder) 		0.010 1.000 1 2011 2011
dbSNP: rs6780220
rs6780220
GLB1
0.882 0.120 3 33045708 non coding transcript exon variant A/C snv 0.19
CUI: C0013595
Disease: Eczema
Eczema 		0.010 1.000 1 2016 2016
dbSNP: rs6780220
rs6780220
GLB1
0.882 0.120 3 33045708 non coding transcript exon variant A/C snv 0.19
CUI: C0263383
Disease: Keratosis pilaris
Keratosis pilaris 		0.010 1.000 1 2016 2016
dbSNP: rs6780220
rs6780220
GLB1
0.882 0.120 3 33045708 non coding transcript exon variant A/C snv 0.19
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		0.010 1.000 1 2016 2016
dbSNP: rs72555365
rs72555365
GLB1 ; LOC107986073
0.925 0.120 3 33016744 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0268233
Disease: GALACTOSIALIDOSIS
GALACTOSIALIDOSIS 		0.010 1.000 1 2003 2003
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 1 1991 2015
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: 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: rs775958270
rs775958270
GLB1
1.000 0.120 3 33051980 missense variant A/G snv 5.6E-05 7.0E-06
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.010 1.000 1 2008 2008
dbSNP: rs781658798
rs781658798
GLB1
0.925 0.120 3 33046194 missense variant C/T snv 2.1E-05
CUI: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1 		0.010 1.000 1 2000 2000
dbSNP: rs72555362
rs72555362
GLB1
0.925 0.160 3 33051979 missense variant C/A snv 5.6E-05 7.0E-06
CUI: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1 		0.030 1.000 3 2001 2019
dbSNP: rs72555362
rs72555362
GLB1
0.925 0.160 3 33051979 missense variant C/A snv 5.6E-05 7.0E-06
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		0.730 1.000 3 1991 2009
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: 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: rs189115557
rs189115557
GLB1
0.882 0.160 3 33058220 missense variant C/T snv 6.4E-05 4.9E-05
CUI: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1 		0.710 1.000 1 1997 2013
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