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.
Hallervorden-Spatz Syndrome
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
42 0.790 0.160 20 3918695 missense variant G/A snv 8.7E-05 2.3E-04 0.820 1.000 13 2001 2016
Abnormal involuntary movement
CUI: C0392702
Disease: Abnormal involuntary movement
10 0.790 0.160 20 3918695 missense variant G/A snv 8.7E-05 2.3E-04 0.700 0
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 0.790 0.160 20 3918695 missense variant G/A snv 8.7E-05 2.3E-04 0.700 0
Dementia
CUI: C0497327
Disease: Dementia
176 0.790 0.160 20 3918695 missense variant G/A snv 8.7E-05 2.3E-04 0.700 0
Dystonia Musculorum Deformans
CUI: C0013423
Disease: Dystonia Musculorum Deformans
1 0.790 0.160 20 3918695 missense variant G/A snv 8.7E-05 2.3E-04 0.700 0
Hereditary retinal dystrophy
CUI: C0154860
Disease: Hereditary retinal dystrophy
1 0.790 0.160 20 3918695 missense variant G/A snv 8.7E-05 2.3E-04 0.700 0
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
CUI: C1846582
Disease: Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
5 0.790 0.160 20 3918695 missense variant G/A snv 8.7E-05 2.3E-04 0.700 0
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL
CUI: C2751506
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL
5 0.790 0.160 20 3918695 missense variant G/A snv 8.7E-05 2.3E-04 0.700 0
Anarthria speech disorder
CUI: C0234517
Disease: Anarthria speech disorder
2 0.790 0.160 20 3918695 missense variant G/A snv 8.7E-05 2.3E-04 0.010 1.000 1 2006 2006