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: 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: rs200928781
rs200928781
CHEK2
0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05
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
dbSNP: rs200928781
rs200928781
CHEK2
0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		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: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C0279607
Disease: Adult Hepatocellular Carcinoma
Adult Hepatocellular Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma 		0.010 1.000 1 2011 2011
dbSNP: rs137853011
rs137853011
CHEK2
0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04
CUI: C1332225
Disease: Aggressive Non-Hodgkin Lymphoma
Aggressive Non-Hodgkin Lymphoma 		0.010 1.000 1 2001 2001
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.010 1.000 1 2019 2019
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: rs531398630
rs531398630
CHEK2
0.882 0.160 22 28695858 missense variant G/A snv 4.8E-04 1.1E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.040 1.000 4 2008 2015
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
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: rs137853010
rs137853010
CHEK2
0.882 0.120 22 28725028 missense variant G/A;C snv 1.1E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs17883862
rs17883862
CHEK2
0.882 0.080 22 28734468 missense variant G/A;C;T snv 9.1E-04; 1.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 < 0.001 1 2007 2007
dbSNP: rs200050883
rs200050883
CHEK2
0.851 0.120 22 28695190 missense variant C/A;G;T snv 3.9E-04 3.4E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs200649225
rs200649225
CHEK2
0.925 0.080 22 28695752 missense variant C/T snv 2.8E-04 1.1E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs200928781
rs200928781
CHEK2
0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs201206424
rs201206424
CHEK2
0.925 0.080 22 28696960 missense variant G/A;C;T snv 5.2E-05 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs28909982
rs28909982
CHEK2
0.925 0.080 22 28725338 missense variant T/C snv 1.2E-04 9.1E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2003 2003
dbSNP: rs587780170
rs587780170
CHEK2
0.851 0.120 22 28695786 missense variant C/A;G;T snv 2.8E-05; 8.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs587780192
rs587780192
CHEK2
0.925 0.080 22 28699929 missense variant C/G;T snv 4.4E-05; 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs587782527
rs587782527
CHEK2
0.925 0.080 22 28695753 missense variant G/A;T snv 5.2E-05; 2.0E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs730881701
rs730881701
CHEK2
0.827 0.200 22 28725278 stop gained G/A;C snv 2.4E-05 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs766794072
rs766794072
CHEK2
0.925 0.080 22 28699890 missense variant A/G snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2020 2020