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: rs1060502716
rs1060502716
CHEK2
1.000 0.080 22 28695874 splice acceptor variant C/A;G;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 14 2001 2015
dbSNP: rs1060502716
rs1060502716
CHEK2
1.000 0.080 22 28695874 splice acceptor variant C/A;G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 2 2011 2014
dbSNP: rs1060502716
rs1060502716
CHEK2
1.000 0.080 22 28695874 splice acceptor variant C/A;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0