rs1800054, ATM

N. diseases: 7
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.
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03 0.050 1.000 5 2004 2010
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03 0.040 1.000 4 2006 2010
Agenesis
CUI: C0000846
Disease: Agenesis
44 0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03 0.010 1.000 1 2014 2014
bilateral breast cancer
CUI: C0281267
Disease: bilateral breast cancer
17 0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03 0.010 1.000 1 2004 2004
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03 0.010 1.000 1 2008 2008
melanoma
CUI: C0025202
Disease: melanoma
515 0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03 0.010 1.000 1 2008 2008
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03 0.010 1.000 1 2008 2008