rs138008832, PDGFRB

N. diseases: 8
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.
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4
CUI: C3554321
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4
3 1.000 5 150123142 missense variant G/A;T snv 1.1E-04; 1.6E-05 0.700 0
Choking
CUI: C0008301
Disease: Choking
1 1.000 5 150123142 missense variant G/A;T snv 1.1E-04; 1.6E-05 0.700 0
Difficulty sleeping
CUI: C0235162
Disease: Difficulty sleeping
4 1.000 5 150123142 missense variant G/A;T snv 1.1E-04; 1.6E-05 0.700 0
Equilibration disorder
CUI: C0575090
Disease: Equilibration disorder
1 1.000 5 150123142 missense variant G/A;T snv 1.1E-04; 1.6E-05 0.700 0
Eye problem
CUI: C0262477
Disease: Eye problem
1 1.000 5 150123142 missense variant G/A;T snv 1.1E-04; 1.6E-05 0.700 0
Speech impairment
CUI: C0233715
Disease: Speech impairment
2 1.000 5 150123142 missense variant G/A;T snv 1.1E-04; 1.6E-05 0.700 0
Supranuclear gaze palsy
CUI: C1720037
Disease: Supranuclear gaze palsy
1 1.000 5 150123142 missense variant G/A;T snv 1.1E-04; 1.6E-05 0.700 0
Tremor
CUI: C0040822
Disease: Tremor
52 1.000 5 150123142 missense variant G/A;T snv 1.1E-04; 1.6E-05 0.700 0