Source: CURATED

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: rs555607708
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03
CUI: C0009319
Disease: Colitis
Colitis 		0.700 0
dbSNP: rs555607708
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03
CUI: C3469524
Disease: PROSTATE CANCER, SUSCEPTIBILITY TO
PROSTATE CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs555607708
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03
CUI: C0206754
Disease: Neuroendocrine Tumors
Neuroendocrine Tumors 		0.700 0
dbSNP: rs555607708
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03
CUI: C2698310
Disease: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified 		0.700 0
dbSNP: rs555607708
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.700 0
dbSNP: rs555607708
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.700 0
dbSNP: rs555607708
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 0
dbSNP: rs555607708
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.700 0