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: rs1033667
rs1033667
CHEK2
1.000 0.080 22 28734312 intron variant C/T snv 0.30
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2019 2019
dbSNP: rs1547014
rs1547014
CHEK2
1.000 0.040 22 28704723 intron variant T/C snv 0.64
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder 		0.010 1.000 1 2012 2012
dbSNP: rs17507066
rs17507066
CHEK2
0.925 0.120 22 28696732 intron variant C/T snv 7.0E-02
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		0.010 1.000 1 2015 2015
dbSNP: rs17507066
rs17507066
CHEK2
0.925 0.120 22 28696732 intron variant C/T snv 7.0E-02
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 1.000 1 2015 2015
dbSNP: rs2017309
rs2017309
CHEK2
0.851 0.040 22 28735438 intron variant T/A snv 0.23
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2006 2006
dbSNP: rs2017309
rs2017309
CHEK2
0.851 0.040 22 28735438 intron variant T/A snv 0.23
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 1.000 1 2006 2006
dbSNP: rs2017309
rs2017309
CHEK2
0.851 0.040 22 28735438 intron variant T/A snv 0.23
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2006 2006
dbSNP: rs2017309
rs2017309
CHEK2
0.851 0.040 22 28735438 intron variant T/A snv 0.23
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2006 2006
dbSNP: rs4035540
rs4035540
CHEK2
1.000 0.080 22 28691053 intron variant T/C;G snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2010 2010
dbSNP: rs4822983
rs4822983
CHEK2
0.925 0.080 22 28719078 intron variant C/T snv 0.33
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2015 2015
dbSNP: rs5762748
rs5762748
CHEK2
0.925 0.080 22 28694902 intron variant G/A snv 6.3E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs5762748
rs5762748
CHEK2
0.925 0.080 22 28694902 intron variant G/A snv 6.3E-02
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2018 2018
dbSNP: rs738722
rs738722
CHEK2
0.882 0.120 22 28734024 intron variant T/C snv 0.67
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 1.000 1 2012 2012
dbSNP: rs738722
rs738722
CHEK2
0.882 0.120 22 28734024 intron variant T/C snv 0.67
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		0.010 1.000 1 2012 2012
dbSNP: rs738722
rs738722
CHEK2
0.882 0.120 22 28734024 intron variant T/C snv 0.67
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.810 1.000 1 2010 2012
dbSNP: rs738722
rs738722
CHEK2
0.882 0.120 22 28734024 intron variant T/C snv 0.67
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs8135424
rs8135424
CHEK2
0.925 0.080 22 28689804 intron variant G/A snv 0.14
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2011 2011
dbSNP: rs8135424
rs8135424
CHEK2
0.925 0.080 22 28689804 intron variant G/A snv 0.14
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs8135424
rs8135424
CHEK2
0.925 0.080 22 28689804 intron variant G/A snv 0.14
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.010 1.000 1 2011 2011
dbSNP: rs8135424
rs8135424
CHEK2
0.925 0.080 22 28689804 intron variant G/A snv 0.14
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2011 2011
dbSNP: rs9620817
rs9620817
CHEK2
0.851 0.120 22 28712568 intron variant A/T snv 8.4E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2017 2017
dbSNP: rs9620817
rs9620817
CHEK2
0.851 0.120 22 28712568 intron variant A/T snv 8.4E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs9620817
rs9620817
CHEK2
0.851 0.120 22 28712568 intron variant A/T snv 8.4E-02
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2018 2018
dbSNP: rs9620817
rs9620817
CHEK2
0.851 0.120 22 28712568 intron variant A/T snv 8.4E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs536907995
rs536907995
CHEK2
0.882 0.120 22 28734664 stop gained G/A snv 1.4E-04 2.8E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 1.000 2 2016 2016