CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
Disease: Mammary Neoplasms ×
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: rs137853011
rs137853011 		0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 7 2005 2016
dbSNP: rs1555913881
rs1555913881 		22 28695841 frameshift variant T/- del
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2004 2004
dbSNP: rs555607708
rs555607708 		0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs587780170
rs587780170 		0.851 0.120 22 28695786 missense variant C/A;G;T snv 2.8E-05; 8.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2007 2007
dbSNP: rs786202676
rs786202676 		22 28696956 missense variant T/A;G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2011 2011
dbSNP: rs17879961
rs17879961 		0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2012 2016
dbSNP: rs778212685
rs778212685 		0.827 0.120 22 28712015 missense variant C/A;G;T snv 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010