Source: CLINVAR ×
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
661 0.882 0.360 11 108365360 missense variant G/A;C snv 8.0E-06 7.0E-06 0.700 1.000 14 1998 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.882 0.360 11 108365360 missense variant G/A;C snv 8.0E-06 7.0E-06 0.700 1.000 10 1999 2013
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
436 0.882 0.360 11 108365360 missense variant G/A;C snv 8.0E-06 7.0E-06 0.700 0