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 0.882 0.240 11 108335080 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 11 2006 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.240 11 108335080 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 7 2006 2013
Lipoma
CUI: C0023798
Disease: Lipoma
9 0.882 0.240 11 108335080 missense variant G/A;C;T snv 4.0E-06 0.700 0
Osteoma
CUI: C0029440
Disease: Osteoma
1 0.882 0.240 11 108335080 missense variant G/A;C;T snv 4.0E-06 0.700 0