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: rs587782401
rs587782401
CHEK2
0.851 0.200 22 28734401 splice donor variant A/G;T snv 4.0E-06; 6.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 2013 2018
dbSNP: rs587782401
rs587782401
CHEK2
0.851 0.200 22 28734401 splice donor variant A/G;T snv 4.0E-06; 6.8E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 5 2016 2018
dbSNP: rs587782401
rs587782401
CHEK2
0.851 0.200 22 28734401 splice donor variant A/G;T snv 4.0E-06; 6.8E-05
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
Li-Fraumeni Syndrome 2 		0.700 0
dbSNP: rs587782401
rs587782401
CHEK2
0.851 0.200 22 28734401 splice donor variant A/G;T snv 4.0E-06; 6.8E-05
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.700 0
dbSNP: rs587782401
rs587782401
CHEK2
0.851 0.200 22 28734401 splice donor variant A/G;T snv 4.0E-06; 6.8E-05
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.700 0