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: rs757369748
rs757369748
PALB2
0.882 0.200 16 23638072 stop gained G/A;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs757369748
rs757369748
PALB2
0.882 0.200 16 23638072 stop gained G/A;T snv 4.0E-06
CUI: C1835817
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N
FANCONI ANEMIA, COMPLEMENTATION GROUP N 		0.700 0
dbSNP: rs757369748
rs757369748
PALB2
0.882 0.200 16 23638072 stop gained G/A;T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs757369748
rs757369748
PALB2
0.882 0.200 16 23638072 stop gained G/A;T snv 4.0E-06
CUI: C3150547
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3
PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 		0.700 0