ATM, ATM serine/threonine kinase, 472

N. diseases: 684; N. variants: 974
Disease: Breast Carcinoma ×
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: rs624366
rs624366 		0.827 0.120 11 108283370 intron variant G/C snv 0.52
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs664143
rs664143 		0.807 0.160 11 108354934 3 prime UTR variant A/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs664677
rs664677 		0.807 0.160 11 108272455 intron variant C/A;T snv 0.65
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs730881333
rs730881333 		0.882 0.280 11 108243994 stop gained C/A;T snv 4.1E-06; 8.1E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs769142993
rs769142993 		0.851 0.280 11 108331498 missense variant G/C;T snv 2.4E-05 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2007 2007