rs748830051, GLB1

N. diseases: 7
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 1 (disorder)
CUI: C0268271
Disease: Gangliosidosis, Generalized GM1, Type 1 (disorder)
79 0.827 0.160 3 33068940 stop gained C/T snv 1.6E-05 0.700 1.000 2 2011 2015
Gangliosidosis, Generalized GM1, Type 2
CUI: C0268272
Disease: Gangliosidosis, Generalized GM1, Type 2
61 0.827 0.160 3 33068940 stop gained C/T snv 1.6E-05 0.700 1.000 2 2011 2015
Gangliosidosis, Generalized GM1, Type 3
CUI: C0268273
Disease: Gangliosidosis, Generalized GM1, Type 3
53 0.827 0.160 3 33068940 stop gained C/T snv 1.6E-05 0.700 1.000 2 2011 2015
Mucopolysaccharidosis type IVB
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
72 0.827 0.160 3 33068940 stop gained C/T snv 1.6E-05 0.700 1.000 2 2011 2015
Cherry red spot of the macula
CUI: C2216370
Disease: Cherry red spot of the macula
15 0.827 0.160 3 33068940 stop gained C/T snv 1.6E-05 0.700 0
Hepatosplenomegaly
CUI: C0019214
Disease: Hepatosplenomegaly
21 0.827 0.160 3 33068940 stop gained C/T snv 1.6E-05 0.700 0
Intracranial Hypertension
CUI: C0151740
Disease: Intracranial Hypertension
1 0.827 0.160 3 33068940 stop gained C/T snv 1.6E-05 0.700 0