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: rs28897672
rs28897672
BRCA1
0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 34 1994 2013
dbSNP: rs41293459
rs41293459
BRCA1
0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 33 2001 2019
dbSNP: rs41293463
rs41293463
BRCA1
0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 30 1994 2014
dbSNP: rs80357522
rs80357522
BRCA1
0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 29 1995 2015
dbSNP: rs28897696
rs28897696
BRCA1
0.807 0.200 17 43063903 missense variant G/A;C;T snv 2.8E-05; 4.0E-06; 2.0E-05
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 28 1994 2016
dbSNP: rs41293455
rs41293455
BRCA1
0.827 0.200 17 43082434 stop gained G/A;C snv 2.4E-05; 3.2E-05
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 28 1994 2013
dbSNP: rs41293465
rs41293465
BRCA1
0.851 0.200 17 43045767 stop gained G/A snv 1.2E-05
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 26 1996 2016
dbSNP: rs45553935
rs45553935
BRCA1
0.851 0.200 17 43057122 missense variant A/C;G;T snv
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 26 2004 2019
dbSNP: rs80356959
rs80356959
BRCA1
0.851 0.200 17 43045761 missense variant A/C;G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 24 1996 2017
dbSNP: rs80357446
rs80357446
BRCA1
0.827 0.200 17 43115729 missense variant C/A;T snv
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 24 2003 2019
dbSNP: rs80357522
rs80357522
BRCA1
0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 23 1995 2017
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
0.827 0.200 17 43124028 frameshift variant CT/-;CTCT delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 23 1995 2017
dbSNP: rs80357150
rs80357150
BRCA1
0.925 0.200 17 43106528 missense variant C/A;T snv
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 22 1996 2018
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
0.827 0.200 17 43124028 frameshift variant CT/-;CTCT delins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 22 1994 2018
dbSNP: rs80356860
rs80356860
BRCA1
0.882 0.200 17 43063909 missense variant C/G;T snv 4.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 21 2000 2016
dbSNP: rs80357662
rs80357662
BRCA1
0.925 0.200 17 43093975 frameshift variant T/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 21 1996 2016
dbSNP: rs80356898
rs80356898
BRCA1
0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 4.0E-06
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 20 1995 2016
dbSNP: rs80357069
rs80357069
BRCA1
0.882 0.200 17 43049164 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 20 1998 2016
dbSNP: rs80357509
rs80357509
BRCA1
0.882 0.200 17 43092046 frameshift variant T/- del 4.0E-06 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 20 1997 2017
dbSNP: rs80357609
rs80357609
BRCA1
0.851 0.200 17 43091827 frameshift variant TTTAC/- delins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 20 1995 2016
dbSNP: rs41293465
rs41293465
BRCA1
0.851 0.200 17 43045767 stop gained G/A snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 19 1996 2017
dbSNP: rs55851803
rs55851803
BRCA1
0.925 0.200 17 43106477 splice donor variant C/G;T snv
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 19 1994 2014
dbSNP: rs80356959
rs80356959
BRCA1
0.851 0.200 17 43045761 missense variant A/C;G snv
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 19 1996 2018
dbSNP: rs80357389
rs80357389
BRCA1
0.882 0.200 17 43076488 missense variant C/A;G;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 19 2003 2018
dbSNP: rs80357446
rs80357446
BRCA1
0.827 0.200 17 43115729 missense variant C/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 19 2001 2017