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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.851 0.280 11 108331498 missense variant G/C;T snv 2.4E-05 7.0E-06 0.700 1.000 7 2000 2012
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
698 0.851 0.280 11 108331498 missense variant G/C;T snv 2.4E-05 7.0E-06 0.700 0
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.851 0.280 11 108331498 missense variant G/C;T snv 2.4E-05 7.0E-06 0.010 1 2007 2007
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.851 0.280 11 108331498 missense variant G/C;T snv 2.4E-05 7.0E-06 0.010 1.000 1 2007 2007
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.851 0.280 11 108331498 missense variant G/C;T snv 2.4E-05 7.0E-06 0.010 1 2007 2007
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.851 0.280 11 108331498 missense variant G/C;T snv 2.4E-05 7.0E-06 0.010 1 2007 2007
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.851 0.280 11 108331498 missense variant G/C;T snv 2.4E-05 7.0E-06 0.010 1 2007 2007