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: rs121908702
rs121908702
CHEK2
0.882 0.120 22 28711986 stop gained C/A;G;T snv 8.0E-06; 4.0E-06; 7.6E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 1 2003 2003
dbSNP: rs121908702
rs121908702
CHEK2
0.882 0.120 22 28711986 stop gained C/A;G;T snv 8.0E-06; 4.0E-06; 7.6E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2003 2003
dbSNP: rs121908702
rs121908702
CHEK2
0.882 0.120 22 28711986 stop gained C/A;G;T snv 8.0E-06; 4.0E-06; 7.6E-05
CUI: C4015779
Disease: PROSTATE CANCER, SOMATIC
PROSTATE CANCER, SOMATIC 		0.700 0