rs180177100, PALB2

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Esophageal atresia with or without tracheoesophageal fistula
CUI: C1861028
Disease: Esophageal atresia with or without tracheoesophageal fistula
12 0.827 0.400 16 23635306 stop gained G/A snv 8.0E-06 1.4E-05 0.700 0
FANCONI ANEMIA, COMPLEMENTATION GROUP N
CUI: C1835817
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N
13 0.827 0.400 16 23635306 stop gained G/A snv 8.0E-06 1.4E-05 0.700 0
PANCREATIC CANCER, SUSCEPTIBILITY TO, 3
CUI: C3150547
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3
14 0.827 0.400 16 23635306 stop gained G/A snv 8.0E-06 1.4E-05 0.700 0
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.827 0.400 16 23635306 stop gained G/A snv 8.0E-06 1.4E-05 0.700 1.000 2 2010 2011
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.827 0.400 16 23635306 stop gained G/A snv 8.0E-06 1.4E-05 0.700 1.000 3 2011 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.827 0.400 16 23635306 stop gained G/A snv 8.0E-06 1.4E-05 0.700 1.000 12 2010 2017