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: rs1801516
rs1801516
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.070 0.714 7 2005 2018
dbSNP: rs189037
rs189037
0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.020 1.000 2 2019 2019
dbSNP: rs1800054
rs1800054
0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs1800056
rs1800056
0.882 0.120 11 108267276 missense variant T/C snv 8.7E-03 8.5E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs1800057
rs1800057
0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs376676328
rs376676328
0.882 0.280 11 108353828 missense variant A/G snv 2.2E-04 1.8E-04
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 < 0.001 1 2007 2007
dbSNP: rs4986761
rs4986761
0.925 0.080 11 108254034 missense variant T/C snv 8.0E-03 7.7E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs564652222
rs564652222
0.925 0.280 11 108325416 missense variant C/A;T snv 1.4E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs587776551
rs587776551
1.000 0.200 11 108281168 missense variant G/A;T snv 1.6E-05 1.4E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs587779872
rs587779872
1.000 0.200 11 108345818 missense variant C/T snv 3.2E-05 1.4E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs664143
rs664143
0.807 0.160 11 108354934 3 prime UTR variant A/G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs769142993
rs769142993
0.851 0.280 11 108331498 missense variant G/C;T snv 2.4E-05 7.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 < 0.001 1 2007 2007