CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
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: rs17879961
rs17879961 		0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.900 0.895 19 2003 2017
dbSNP: rs137853007
rs137853007 		0.790 0.240 22 28725254 missense variant G/A;T snv 5.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs555607708
rs555607708 		0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs587780174
rs587780174 		0.827 0.360 22 28695239 frameshift variant A/- delins 4.4E-05 5.6E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs587782471
rs587782471 		0.851 0.240 22 28711994 missense variant A/G;T snv 3.5E-04; 8.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs864622149
rs864622149 		0.851 0.160 22 28710005 splice donor variant C/A;G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs531398630
rs531398630 		0.882 0.160 22 28695858 missense variant G/A snv 4.8E-04 1.1E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.040 1.000 4 2008 2015
dbSNP: rs536907995
rs536907995 		0.882 0.120 22 28734664 stop gained G/A snv 1.4E-04 2.8E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2016 2016
dbSNP: rs1175088679
rs1175088679 		0.925 0.080 22 28695764 missense variant G/A snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs137853010
rs137853010 		0.882 0.120 22 28725028 missense variant G/A;C snv 1.1E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs17883862
rs17883862 		0.882 0.080 22 28734468 missense variant G/A;C;T snv 9.1E-04; 1.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2007 2007
dbSNP: rs200050883
rs200050883 		0.851 0.120 22 28695190 missense variant C/A;G;T snv 3.9E-04 3.4E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs200649225
rs200649225 		0.925 0.080 22 28695752 missense variant C/T snv 2.8E-04 1.1E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs200928781
rs200928781 		0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs201206424
rs201206424 		0.925 0.080 22 28696960 missense variant G/A;C;T snv 5.2E-05 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs28909982
rs28909982 		0.925 0.080 22 28725338 missense variant T/C snv 1.2E-04 9.1E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2003 2003
dbSNP: rs587780170
rs587780170 		0.851 0.120 22 28695786 missense variant C/A;G;T snv 2.8E-05; 8.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs587780192
rs587780192 		0.925 0.080 22 28699929 missense variant C/G;T snv 4.4E-05; 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs587782527
rs587782527 		0.925 0.080 22 28695753 missense variant G/A;T snv 5.2E-05; 2.0E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs730881701
rs730881701 		0.827 0.200 22 28725278 stop gained G/A;C snv 2.4E-05 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs766794072
rs766794072 		0.925 0.080 22 28699890 missense variant A/G snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2020 2020
dbSNP: rs77130927
rs77130927 		0.882 0.120 22 28725031 missense variant G/A snv 1.0E-03 5.5E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs9620817
rs9620817 		0.851 0.120 22 28712568 intron variant A/T snv 8.4E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017