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: rs1057517596
rs1057517596 		1.000 0.080 22 28699937 splice acceptor variant C/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1060502687
rs1060502687 		1.000 0.080 22 28711917 frameshift variant TT/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1060502698
rs1060502698 		22 28689216 splice acceptor variant C/T snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1060502710
rs1060502710 		1.000 0.080 22 28711922 stop gained G/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1060502716
rs1060502716 		1.000 0.080 22 28695874 splice acceptor variant C/A;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1064795959
rs1064795959 		22 28734440 frameshift variant A/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131691044
rs1131691044 		1.000 0.080 22 28711939 frameshift variant C/-;CC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131691044
rs1131691044 		1.000 0.080 22 28711939 frameshift variant C/-;CC delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1131691045
rs1131691045 		1.000 0.080 22 28689176 frameshift variant C/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs121908698
rs121908698 		0.851 0.200 22 28725242 splice donor variant C/A;T snv 4.0E-06; 1.3E-04
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.700 0
dbSNP: rs121908698
rs121908698 		0.851 0.200 22 28725242 splice donor variant C/A;T snv 4.0E-06; 1.3E-04
CUI: C1858433
Disease: BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO
BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs121908698
rs121908698 		0.851 0.200 22 28725242 splice donor variant C/A;T snv 4.0E-06; 1.3E-04
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.700 0
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: rs121908698
rs121908698 		0.851 0.200 22 28725242 splice donor variant C/A;T snv 4.0E-06; 1.3E-04
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs121908701
rs121908701 		1.000 0.080 22 28725027 missense variant C/T snv 1.4E-04 6.3E-05
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.700 0
dbSNP: rs121908702
rs121908702 		0.882 0.120 22 28711986 stop gained C/A;G;T snv 8.0E-06; 4.0E-06; 7.6E-05
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.700 0
dbSNP: rs121908702
rs121908702 		0.882 0.120 22 28711986 stop gained C/A;G;T snv 8.0E-06; 4.0E-06; 7.6E-05
CUI: C4015779
Disease: PROSTATE CANCER, SOMATIC
PROSTATE CANCER, SOMATIC 		0.700 0
dbSNP: rs121908707
rs121908707 		0.925 0.160 22 28695709 splice donor variant C/A;G;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1225437533
rs1225437533 		1.000 0.080 22 28725091 frameshift variant T/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1225437533
rs1225437533 		1.000 0.080 22 28725091 frameshift variant T/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1231012263
rs1231012263 		1.000 0.080 22 28734622 stop gained G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1231012263
rs1231012263 		1.000 0.080 22 28734622 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1248967885
rs1248967885 		22 28695731 stop gained A/C;G snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1250779080
rs1250779080 		22 28719481 frameshift variant A/- delins 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1293617484
rs1293617484 		22 28703568 splice acceptor variant TAAGAAGAGGGGG/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0