ATM, ATM serine/threonine kinase, 472

N. diseases: 684; N. variants: 974
Disease: Malignant neoplasm of breast ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28904921
rs28904921 		0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.780 0.875 8 1998 2016
dbSNP: rs587779852
rs587779852 		0.882 0.280 11 108312424 stop gained G/T snv 4.4E-05 3.5E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 1 2009 2009
dbSNP: rs1131691164
rs1131691164 		0.925 0.280 11 108292689 stop gained C/T snv 8.0E-06 4.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1137887
rs1137887 		0.925 0.280 11 108256340 splice region variant G/A snv 4.4E-05 2.8E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1185204988
rs1185204988 		0.925 0.280 11 108248987 stop gained C/G;T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs138941496
rs138941496 		0.925 0.280 11 108332765 stop gained C/G;T snv 4.0E-06; 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs139770721
rs139770721 		0.925 0.280 11 108315911 missense variant G/A snv 2.8E-05 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555069815
rs1555069815 		0.925 0.280 11 108249082 frameshift variant T/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555070980
rs1555070980 		0.925 0.280 11 108250907 stop gained T/G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555093684
rs1555093684 		0.925 0.280 11 108284414 frameshift variant GA/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555119041
rs1555119041 		0.925 0.280 11 108325352 stop gained G/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1565503137
rs1565503137 		0.925 0.280 11 108317446 frameshift variant G/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs17174393
rs17174393 		0.882 0.280 11 108353881 splice donor variant G/A;C;T snv 1.6E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs377349459
rs377349459 		0.925 0.280 11 108332886 stop gained G/A snv 4.0E-06 5.6E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs397514577
rs397514577 		0.882 0.280 11 108317374 missense variant C/A snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs532480170
rs532480170 		0.882 0.280 11 108316015 stop gained C/A;T snv 1.2E-05; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs55861249
rs55861249 		0.925 0.280 11 108227806 stop gained C/A;T snv 7.2E-05; 2.0E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs56399857
rs56399857 		1.000 0.080 11 108330381 missense variant T/G snv 9.9E-05 1.8E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs564652222
rs564652222 		0.925 0.280 11 108325416 missense variant C/A;T snv 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs587776547
rs587776547 		0.882 0.320 11 108331885 inframe deletion TAGAATTTC/- delins 2.8E-05 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs587779817
rs587779817 		0.925 0.280 11 108251026 frameshift variant GA/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs587779833
rs587779833 		0.925 0.280 11 108279578 stop gained C/G snv 4.0E-06 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs587779866
rs587779866 		0.925 0.280 11 108331877 splice acceptor variant A/C;G snv 8.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs587781558
rs587781558 		0.925 0.280 11 108271147 splice donor variant G/A;C;T snv 2.4E-05; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs587781653
rs587781653 		0.925 0.280 11 108289737 frameshift variant G/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0