ATM, ATM serine/threonine kinase, 472

N. diseases: 684; N. variants: 974
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: rs376603775
rs376603775
0.925 0.280 11 108304801 stop gained C/A;T snv 2.0E-05 3.5E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs587782652
rs587782652
0.851 0.320 11 108335105 missense variant T/C snv 3.2E-05 4.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs755009196
rs755009196
0.925 0.160 11 108332024 missense variant C/G snv 1.6E-05 2.1E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs772821016
rs772821016
0.882 0.320 11 108244873 stop gained C/T snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs775248597
rs775248597
0.851 0.120 11 108229185 stop gained C/G;T snv 8.1E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs777741666
rs777741666
0.925 0.080 11 108327759 splice donor variant G/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1801516
rs1801516
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.100 0.786 14 2003 2019
dbSNP: rs28904921
rs28904921
0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.080 0.875 8 1998 2016
dbSNP: rs1800054
rs1800054
0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.050 1.000 5 2004 2010
dbSNP: rs1800057
rs1800057
0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.040 1.000 4 2002 2018
dbSNP: rs1800058
rs1800058
0.925 0.080 11 108289623 missense variant C/T snv 1.1E-02 1.1E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.030 0.667 3 2003 2007
dbSNP: rs4986761
rs4986761
0.925 0.080 11 108254034 missense variant T/C snv 8.0E-03 7.7E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2002 2008
dbSNP: rs1800056
rs1800056
0.882 0.120 11 108267276 missense variant T/C snv 8.7E-03 8.5E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2004 2008
dbSNP: rs189037
rs189037
0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2010 2018
dbSNP: rs228589
rs228589
0.925 0.080 11 108222481 intron variant A/T snv 0.58 0.54
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2006 2007
dbSNP: rs1003623
rs1003623
0.925 0.080 11 108281855 intron variant C/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs139379666
rs139379666
0.925 0.080 11 108365152 missense variant C/T snv 7.6E-05 5.6E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1801673
rs1801673
0.882 0.120 11 108304736 missense variant A/T snv 4.9E-03 4.4E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2227924
rs2227924
0.882 0.080 11 108251865 missense variant C/G snv 3.9E-03 1.5E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2003 2003
dbSNP: rs228595
rs228595
0.925 0.080 11 108234866 intron variant G/A snv 0.36
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3092856
rs3092856
0.882 0.120 11 108289005 missense variant C/T snv 1.2E-02 2.2E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs369642243
rs369642243
0.925 0.080 11 108253997 synonymous variant T/C snv 1.6E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2008 2008
dbSNP: rs373759
rs373759
0.882 0.120 11 108349930 intron variant C/T snv 0.27
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs376676328
rs376676328
0.882 0.280 11 108353828 missense variant A/G snv 2.2E-04 1.8E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs587779852
rs587779852
0.882 0.280 11 108312424 stop gained G/T snv 4.4E-05 3.5E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009