rs72555390, GLB1

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Gangliosidosis, Generalized GM1, Type 3
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
53 0.807 0.160 3 33072637 missense variant A/G;T snv 0.800 1.000 15 1991 2015
Gangliosidosis, Generalized GM1, Type 1 (disorder)
CUI: C0268271
Disease: Gangliosidosis, Generalized GM1, Type 1 (disorder)
79 0.807 0.160 3 33072637 missense variant A/G;T snv 0.700 1.000 6 1991 2011
Gangliosidosis, Generalized GM1, Type 2
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
61 0.807 0.160 3 33072637 missense variant A/G;T snv 0.700 1.000 6 1991 2011
Mucopolysaccharidosis type IVB
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
72 0.807 0.160 3 33072637 missense variant A/G;T snv 0.700 1.000 6 1991 2011
Gangliosidosis GM1
CUI: C0085131
Disease: Gangliosidosis GM1
31 0.807 0.160 3 33072637 missense variant A/G;T snv 0.020 1.000 2 1992 2014
GALACTOSIALIDOSIS
CUI: C0268233
Disease: GALACTOSIALIDOSIS
19 0.807 0.160 3 33072637 missense variant A/G;T snv 0.010 1.000 1 2003 2003