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: rs786203458
rs786203458 		1.000 0.080 22 28734445 frameshift variant A/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
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: 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: rs1555913632
rs1555913632 		1.000 0.080 22 28695708 splice donor variant A/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555916968
rs1555916968 		22 28703534 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: rs1569121048
rs1569121048 		1.000 0.080 22 28699861 frameshift variant A/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1569150017
rs1569150017 		1.000 0.080 22 28719457 frameshift variant A/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		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: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs587780174
rs587780174 		0.827 0.360 22 28695239 frameshift variant A/- delins 4.4E-05 5.6E-05
CUI: C3714644
Disease: Thymus Neoplasms
Thymus Neoplasms 		Neoplasms; Hemic and Lymphatic 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: rs587780174
rs587780174 		0.827 0.360 22 28695239 frameshift variant A/- delins 4.4E-05 5.6E-05
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
Type 1 Papillary Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs753159426
rs753159426 		1.000 0.080 22 28695781 frameshift variant A/- delins 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs753159426
rs753159426 		1.000 0.080 22 28695781 frameshift variant A/- delins 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs765664259
rs765664259 		22 28695731 frameshift variant A/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1555927148
rs1555927148 		1.000 0.080 22 28725255 frameshift variant A/-;AA delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs876658302
rs876658302 		22 28695772 frameshift variant A/-;AA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs886039609
rs886039609 		22 28719472 frameshift variant A/-;AA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1569115687
rs1569115687 		1.000 0.080 22 28696899 splice donor variant A/C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2011 2014
dbSNP: rs17886163
rs17886163 		0.925 0.080 22 28695159 missense variant A/C snv 1.4E-03 5.4E-03
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs17886163
rs17886163 		0.925 0.080 22 28695159 missense variant A/C snv 1.4E-03 5.4E-03
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1555915295
rs1555915295 		1.000 0.080 22 28699836 splice donor variant A/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1555915295
rs1555915295 		1.000 0.080 22 28699836 splice donor variant A/C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue 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: rs587781705
rs587781705 		0.851 0.200 22 28734506 stop gained A/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs587781705
rs587781705 		0.851 0.200 22 28734506 stop gained A/C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0