Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1800054
rs1800054
ATM
0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.050 1.000 5 2004 2010
dbSNP: rs1800054
rs1800054
ATM
0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.040 1.000 4 2006 2010
dbSNP: rs1800054
rs1800054
ATM
0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2008 2008
dbSNP: rs1800054
rs1800054
ATM
0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2014 2014
dbSNP: rs1800054
rs1800054
ATM
0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		0.010 1.000 1 2004 2004
dbSNP: rs1800054
rs1800054
ATM
0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2008 2008
dbSNP: rs1800054
rs1800054
ATM
0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2008 2008