rs118203998, PALB2

N. diseases: 11
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 0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06 0.700 0
FANCONI ANEMIA, COMPLEMENTATION GROUP N
CUI: C1835817
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N
13 0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06 0.700 0
PANCREATIC CANCER, SUSCEPTIBILITY TO, 3
CUI: C3150547
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3
14 0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06 0.700 0
BREAST CANCER, SUSCEPTIBILITY TO
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
24 0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06 0.700 0
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
315 0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06 0.700 0
melanoma
CUI: C0025202
Disease: melanoma
515 0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06 0.010 1.000 1 2014 2014
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06 0.010 1.000 1 2014 2014
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06 0.010 1.000 1 2014 2014
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06 0.700 1.000 4 2007 2015
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06 0.700 1.000 15 2007 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06 0.700 1.000 13 2007 2017