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: rs587776419
rs587776419
PALB2
0.882 0.200 16 23624008 splice donor variant C/A;G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 1 2014 2014
dbSNP: rs587776419
rs587776419
PALB2
0.882 0.200 16 23624008 splice donor variant C/A;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2014 2014
dbSNP: rs587776419
rs587776419
PALB2
0.882 0.200 16 23624008 splice donor variant C/A;G;T snv
CUI: C3150547
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3
PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 		0.700 0
dbSNP: rs587776419
rs587776419
PALB2
0.882 0.200 16 23624008 splice donor variant C/A;G;T snv
CUI: C1835817
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N
FANCONI ANEMIA, COMPLEMENTATION GROUP N 		0.700 0