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: rs80358814
rs80358814
BRCA2
0.742 0.440 13 32340212 stop gained G/T snv 8.0E-06
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.710 1.000 1 2013 2013
dbSNP: rs80358814
rs80358814
BRCA2
0.742 0.440 13 32340212 stop gained G/T snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 15 1996 2016
dbSNP: rs80358814
rs80358814
BRCA2
0.742 0.440 13 32340212 stop gained G/T snv 8.0E-06
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 13 1997 2017
dbSNP: rs80358814
rs80358814
BRCA2
0.742 0.440 13 32340212 stop gained G/T snv 8.0E-06
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 4 1997 2011
dbSNP: rs80358814
rs80358814
BRCA2
0.742 0.440 13 32340212 stop gained G/T snv 8.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs80358814
rs80358814
BRCA2
0.742 0.440 13 32340212 stop gained G/T snv 8.0E-06
CUI: C2751641
Disease: GLIOMA SUSCEPTIBILITY 3
GLIOMA SUSCEPTIBILITY 3 		0.700 0
dbSNP: rs80358814
rs80358814
BRCA2
0.742 0.440 13 32340212 stop gained G/T snv 8.0E-06
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.700 0
dbSNP: rs80358814
rs80358814
BRCA2
0.742 0.440 13 32340212 stop gained G/T snv 8.0E-06
CUI: C3150546
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2
PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs80358814
rs80358814
BRCA2
0.742 0.440 13 32340212 stop gained G/T snv 8.0E-06
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.700 0
dbSNP: rs80358814
rs80358814
BRCA2
0.742 0.440 13 32340212 stop gained G/T snv 8.0E-06
CUI: C1861028
Disease: Esophageal atresia with or without tracheoesophageal fistula
Esophageal atresia with or without tracheoesophageal fistula 		0.700 0
dbSNP: rs80358814
rs80358814
BRCA2
0.742 0.440 13 32340212 stop gained G/T snv 8.0E-06
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.700 0
dbSNP: rs80358814
rs80358814
BRCA2
0.742 0.440 13 32340212 stop gained G/T snv 8.0E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2013 2013