Source: CLINVAR

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: rs80357906
rs80357906
BRCA1
0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 < 0.001 0 2019 2019
dbSNP: rs80357906
rs80357906
BRCA1
0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 18 1994 2013
dbSNP: rs80357906
rs80357906
BRCA1
0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 15 1994 2013
dbSNP: rs80357906
rs80357906
BRCA1
0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 14 1994 2016
dbSNP: rs80357906
rs80357906
BRCA1
0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04
CUI: C3469525
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO
PANCREATIC CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs80357906
rs80357906
BRCA1
0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 0
dbSNP: rs80357906
rs80357906
BRCA1
0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0