Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1242405057
rs1242405057
0.925 0.080 7 143264093 missense variant G/A snv 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2007 2010
dbSNP: rs200469041
rs200469041
0.851 0.200 7 143265021 missense variant G/A snv 7.6E-05 2.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2007 2010
dbSNP: rs764342874
rs764342874
0.882 0.240 7 143263541 frameshift variant TCTTCTATGACGTGCTGTC/- delins 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs866838052
rs866838052
0.851 0.160 7 143267618 missense variant C/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017