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 0.200 11 108345804 missense variant T/G snv 0.800 1.000 23 1995 2017
Ataxia-Telangiectasia Variant
CUI: C1876175
Disease: Ataxia-Telangiectasia Variant
5 0.925 0.200 11 108345804 missense variant T/G snv 0.700 0