Source: CURATED

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: rs180177092
rs180177092
0.851 0.280 16 23635788 frameshift variant AG/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 11 2007 2016
dbSNP: rs180177092
rs180177092
0.851 0.280 16 23635788 frameshift variant AG/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 1.000 4 2007 2015
dbSNP: rs180177092
rs180177092
0.851 0.280 16 23635788 frameshift variant AG/- delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 0
dbSNP: rs180177092
rs180177092
0.851 0.280 16 23635788 frameshift variant AG/- delins
FANCONI ANEMIA, COMPLEMENTATION GROUP N
0.700 0
dbSNP: rs180177092
rs180177092
0.851 0.280 16 23635788 frameshift variant AG/- delins
PANCREATIC CANCER, SUSCEPTIBILITY TO, 3
0.700 0