Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.900 0.895 17 2003 2017
dbSNP: rs17879961
rs17879961
CHEK2
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 		0.800 0.929 17 2001 2016
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.090 0.889 9 2006 2013
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.090 1.000 9 2006 2013
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.090 1.000 9 2006 2013
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.070 1.000 7 2006 2013
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.030 1.000 3 2004 2008
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.030 1.000 3 2004 2008
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.030 1.000 3 2006 2019
dbSNP: rs17879961
rs17879961
CHEK2
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 		0.730 1.000 3 2008 2016
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.030 1.000 3 2011 2015
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.730 1.000 3 2008 2016
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.030 1.000 3 2008 2016
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.020 1.000 2 2012 2016
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.020 1.000 2 2004 2015
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		0.020 1.000 2 2004 2015
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.020 1.000 2 2004 2015
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 0.500 2 2016 2019
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2004 2016
dbSNP: rs747797219
rs747797219
CHEK2
22 28689135 missense variant C/A;G snv 4.3E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2006 2007
dbSNP: rs747797219
rs747797219
CHEK2
22 28689135 missense variant C/A;G snv 4.3E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2006 2007
dbSNP: rs1175088679
rs1175088679
CHEK2
0.925 0.080 22 28695764 missense variant G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2019 2019
dbSNP: rs1175088679
rs1175088679
CHEK2
0.925 0.080 22 28695764 missense variant G/A snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs1296957097
rs1296957097
CHEK2
0.882 0.120 22 28719401 missense variant A/G snv
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 1.000 1 2006 2006
dbSNP: rs1296957097
rs1296957097
CHEK2
0.882 0.120 22 28719401 missense variant A/G snv
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2006 2006