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: rs483353122
rs483353122
BRCA2
0.851 0.200 13 32363410 frameshift variant -/AG ins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 0
dbSNP: rs483353122
rs483353122
BRCA2
0.851 0.200 13 32363410 frameshift variant -/AG ins
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs483353122
rs483353122
BRCA2
0.851 0.200 13 32363410 frameshift variant -/AG ins
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs483353122
rs483353122
BRCA2
0.851 0.200 13 32363410 frameshift variant -/AG ins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2019 2019