rs202160208, GMPPB

N. diseases: 9
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.
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
CUI: C3809221
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
13 0.827 0.160 3 49722056 missense variant C/T snv 2.9E-04 1.8E-04 0.800 1.000 6 2013 2017
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
CUI: C3714932
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
21 0.827 0.160 3 49722056 missense variant C/T snv 2.9E-04 1.8E-04 0.800 1.000 6 2013 2017
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
CUI: C3809216
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
13 0.827 0.160 3 49722056 missense variant C/T snv 2.9E-04 1.8E-04 0.700 1.000 6 2013 2017
Amblyopia
CUI: C0002418
Disease: Amblyopia
29 0.827 0.160 3 49722056 missense variant C/T snv 2.9E-04 1.8E-04 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.827 0.160 3 49722056 missense variant C/T snv 2.9E-04 1.8E-04 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.827 0.160 3 49722056 missense variant C/T snv 2.9E-04 1.8E-04 0.700 0
Esotropia
CUI: C0014877
Disease: Esotropia
39 0.827 0.160 3 49722056 missense variant C/T snv 2.9E-04 1.8E-04 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.827 0.160 3 49722056 missense variant C/T snv 2.9E-04 1.8E-04 0.700 0
Congenital muscular dystrophy (disorder)
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
20 0.827 0.160 3 49722056 missense variant C/T snv 2.9E-04 1.8E-04 0.010 1.000 1 2015 2015