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: rs730881701
rs730881701
CHEK2
0.827 0.200 22 28725278 stop gained G/A;C snv 2.4E-05 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 0 2016 2016
dbSNP: rs730881701
rs730881701
CHEK2
0.827 0.200 22 28725278 stop gained G/A;C snv 2.4E-05 7.0E-06
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
Li-Fraumeni Syndrome 2 		0.700 0
dbSNP: rs730881701
rs730881701
CHEK2
0.827 0.200 22 28725278 stop gained G/A;C snv 2.4E-05 7.0E-06
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.700 0
dbSNP: rs730881701
rs730881701
CHEK2
0.827 0.200 22 28725278 stop gained G/A;C snv 2.4E-05 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs730881701
rs730881701
CHEK2
0.827 0.200 22 28725278 stop gained G/A;C snv 2.4E-05 7.0E-06
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.700 0