Source: CLINVAR

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 0 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 14 2001 2016
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.710 1.000 0 2004 2004
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.710 1.000 0 2006 2006
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.710 1.000 0 2009 2009
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 32 2001 2016
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C1858433
Disease: BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO
BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
Li-Fraumeni Syndrome 2 		0.700 0
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C1858439
Disease: CANCER OF MULTIPLE TYPES, SUSCEPTIBILITY TO
CANCER OF MULTIPLE TYPES, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C1858438
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO
COLORECTAL CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C3469524
Disease: PROSTATE CANCER, SUSCEPTIBILITY TO
PROSTATE CANCER, SUSCEPTIBILITY TO 		0.700 0