Source: ALL

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: rs180177100
rs180177100
PALB2
0.827 0.400 16 23635306 stop gained G/A snv 8.0E-06 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 12 2010 2017
dbSNP: rs180177100
rs180177100
PALB2
0.827 0.400 16 23635306 stop gained G/A snv 8.0E-06 1.4E-05
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 3 2011 2016
dbSNP: rs180177100
rs180177100
PALB2
0.827 0.400 16 23635306 stop gained G/A snv 8.0E-06 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 2 2010 2011
dbSNP: rs180177100
rs180177100
PALB2
0.827 0.400 16 23635306 stop gained G/A snv 8.0E-06 1.4E-05
CUI: C1835817
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N
FANCONI ANEMIA, COMPLEMENTATION GROUP N 		0.700 0
dbSNP: rs180177100
rs180177100
PALB2
0.827 0.400 16 23635306 stop gained G/A snv 8.0E-06 1.4E-05
CUI: C1861028
Disease: Esophageal atresia with or without tracheoesophageal fistula
Esophageal atresia with or without tracheoesophageal fistula 		0.700 0
dbSNP: rs180177100
rs180177100
PALB2
0.827 0.400 16 23635306 stop gained G/A snv 8.0E-06 1.4E-05
CUI: C3150547
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3
PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 		0.700 0