rs80357989, BRCA1

N. diseases: 4
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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.200 17 43094680 frameshift variant -/TAATGAG delins 0.700 1.000 1 2003 2003
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2277 0.882 0.200 17 43094680 frameshift variant -/TAATGAG delins 0.700 0
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.882 0.200 17 43094680 frameshift variant -/TAATGAG delins 0.700 0
Rhabdomyosarcoma
CUI: C0035412
Disease: Rhabdomyosarcoma
20 0.882 0.200 17 43094680 frameshift variant -/TAATGAG delins 0.700 0