CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
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: rs200928781
rs200928781 		0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.810 1.000 13 2002 2018
dbSNP: rs738722
rs738722 		0.882 0.120 22 28734024 intron variant T/C snv 0.67
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.810 1.000 2 2010 2012
dbSNP: rs17879961
rs17879961 		0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.800 0.929 28 2001 2016
dbSNP: rs137853007
rs137853007 		0.790 0.240 22 28725254 missense variant G/A;T snv 5.2E-05
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
Li-Fraumeni Syndrome 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases 0.800 1.000 1 2001 2001
dbSNP: rs4822983
rs4822983 		0.925 0.080 22 28719078 intron variant C/T snv 0.33
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.800 1.000 1 2012 2012
dbSNP: rs137853008
rs137853008 		1.000 0.040 22 28734673 missense variant C/A snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.800 0
dbSNP: rs17879961
rs17879961 		0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.730 1.000 4 2008 2016
dbSNP: rs17879961
rs17879961 		0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.730 1.000 4 2008 2016
dbSNP: rs536907995
rs536907995 		0.882 0.120 22 28734664 stop gained G/A snv 1.4E-04 2.8E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.720 1.000 4 2014 2016
dbSNP: rs28909982
rs28909982 		0.925 0.080 22 28725338 missense variant T/C snv 1.2E-04 9.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 18 2002 2019
dbSNP: rs137853007
rs137853007 		0.790 0.240 22 28725254 missense variant G/A;T snv 5.2E-05
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases 0.710 1.000 4 2001 2012
dbSNP: rs17879961
rs17879961 		0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.710 1.000 1 2006 2006
dbSNP: rs17879961
rs17879961 		0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.710 1.000 1 2009 2009
dbSNP: rs17879961
rs17879961 		0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.710 1.000 1 2004 2004
dbSNP: rs730881701
rs730881701 		0.827 0.200 22 28725278 stop gained G/A;C snv 2.4E-05 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 1 2016 2016
dbSNP: rs17879961
rs17879961 		0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 32 2001 2016
dbSNP: rs1555913934
rs1555913934 		1.000 0.160 22 28695868 frameshift variant AG/- del
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 22 1999 2014
dbSNP: rs555607708
rs555607708 		0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 21 1999 2017
dbSNP: rs137853011
rs137853011 		0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.700 1.000 18 2005 2018
dbSNP: rs142763740
rs142763740 		1.000 0.080 22 28694066 missense variant G/A;C;T snv 3.3E-04 3.1E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 17 1999 2018
dbSNP: rs137853007
rs137853007 		0.790 0.240 22 28725254 missense variant G/A;T snv 5.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 15 2001 2016
dbSNP: rs1060502716
rs1060502716 		1.000 0.080 22 28695874 splice acceptor variant C/A;G;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 14 2001 2015
dbSNP: rs121908698
rs121908698 		0.851 0.200 22 28725242 splice donor variant C/A;T snv 4.0E-06; 1.3E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 14 2003 2017
dbSNP: rs28909982
rs28909982 		0.925 0.080 22 28725338 missense variant T/C snv 1.2E-04 9.1E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 11 2003 2017