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.
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
698 0.925 0.240 11 108326149 missense variant G/C snv 0.700 0
Decreased antibody level in blood
CUI: C4048270
Disease: Decreased antibody level in blood
5 0.925 0.240 11 108326149 missense variant G/C snv 0.700 0
Elevated alpha-fetoprotein
CUI: C0235971
Disease: Elevated alpha-fetoprotein
1 0.925 0.240 11 108326149 missense variant G/C snv 0.700 0
Immunologic Deficiency Syndromes
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
31 0.925 0.240 11 108326149 missense variant G/C snv 0.700 0
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.925 0.240 11 108326149 missense variant G/C snv 0.700 0
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 0.925 0.240 11 108326149 missense variant G/C snv 0.700 0
Progressive cerebellar ataxia
CUI: C0393525
Disease: Progressive cerebellar ataxia
23 0.925 0.240 11 108326149 missense variant G/C snv 0.700 0