CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
Disease: Li-Fraumeni Syndrome 2 ×
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: 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: rs121908698
rs121908698 		0.851 0.200 22 28725242 splice donor variant C/A;T snv 4.0E-06; 1.3E-04
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
Li-Fraumeni Syndrome 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs137853011
rs137853011 		0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
Li-Fraumeni Syndrome 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs17879961
rs17879961 		0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
Li-Fraumeni Syndrome 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs200917541
rs200917541 		0.851 0.200 22 28725270 stop gained G/A;T snv
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
Li-Fraumeni Syndrome 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs555607708
rs555607708 		0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
Li-Fraumeni Syndrome 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs560596101
rs560596101 		0.851 0.200 22 28725241 splice donor variant A/C;G;T snv 4.0E-06
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
Li-Fraumeni Syndrome 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587781705
rs587781705 		0.851 0.200 22 28734506 stop gained A/C snv
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
Li-Fraumeni Syndrome 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587782401
rs587782401 		0.851 0.200 22 28734401 splice donor variant A/G;T snv 4.0E-06; 6.8E-05
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
Li-Fraumeni Syndrome 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587782471
rs587782471 		0.851 0.240 22 28711994 missense variant A/G;T snv 3.5E-04; 8.0E-06
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
Li-Fraumeni Syndrome 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs730881701
rs730881701 		0.827 0.200 22 28725278 stop gained G/A;C snv 2.4E-05 7.0E-06
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
Li-Fraumeni Syndrome 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases 0.700 0