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: 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: rs41293455
rs41293455
BRCA1
0.827 0.200 17 43082434 stop gained G/A;C snv 2.4E-05; 3.2E-05
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 14 1994 2013
dbSNP: rs80356929
rs80356929
BRCA1 ; NBR2
0.925 0.080 17 43124044 missense variant A/C;G;T snv
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 14 1996 2019
dbSNP: rs41293465
rs41293465
BRCA1
0.851 0.200 17 43045767 stop gained G/A snv 1.2E-05
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 13 1996 2015
dbSNP: rs45444999
rs45444999
BRCA1
1.000 17 43063882 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 13 2001 2019
dbSNP: rs41293459
rs41293459
BRCA1
0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 12 2001 2019
dbSNP: rs55851803
rs55851803
BRCA1
0.925 0.200 17 43106477 splice donor variant C/G;T snv
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 12 2000 2019
dbSNP: rs80356959
rs80356959
BRCA1
0.851 0.200 17 43045761 missense variant A/C;G snv
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 12 1996 2019
dbSNP: rs80357327
rs80357327
BRCA1
0.827 0.200 17 43115730 missense variant A/C;G;T snv
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 12 2001 2016
dbSNP: rs45553935
rs45553935
BRCA1
0.851 0.200 17 43057122 missense variant A/C;G;T snv
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 11 2004 2016
dbSNP: rs80357281
rs80357281
BRCA1
0.882 0.200 17 43051104 missense variant A/G snv
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 11 2005 2016
dbSNP: rs80358042
rs80358042
BRCA1
0.925 0.200 17 43106455 splice donor variant C/A;G;T snv 4.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 11 1995 2019
dbSNP: rs80358086
rs80358086
BRCA1
0.925 0.200 17 43070922 splice region variant A/C;G snv 4.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 11 2001 2019
dbSNP: rs80358145
rs80358145
BRCA1
0.925 0.200 17 43047642 splice donor variant C/T snv 7.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 11 2001 2015
dbSNP: rs80357389
rs80357389
BRCA1
0.882 0.200 17 43076488 missense variant C/A;G;T snv 4.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 10 2007 2019
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: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 9 2003 2012
dbSNP: rs80357064
rs80357064
BRCA1
0.882 0.200 17 43106478 stop lost A/C;G snv 1.2E-05
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 9 1994 2013
dbSNP: rs80357069
rs80357069
BRCA1
0.882 0.200 17 43049164 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 9 1998 2015
dbSNP: rs80358027
rs80358027
BRCA1
0.925 0.200 17 43082403 splice donor variant C/A;G;T snv 4.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 9 2004 2019
dbSNP: rs80358163
rs80358163
BRCA1
0.882 0.200 17 43104968 intron variant T/C snv
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 9 1998 2019
dbSNP: rs28897672
rs28897672
BRCA1
0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 8 1998 2015
dbSNP: rs62625308
rs62625308
BRCA1
0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 8 1997 2015
dbSNP: rs80187739
rs80187739
BRCA1
0.851 0.200 17 43067608 missense variant C/A;G;T snv 1.2E-05
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 8 2005 2019
dbSNP: rs80356862
rs80356862
BRCA1
0.925 0.200 17 43071046 missense variant G/C snv 4.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 8 2003 2014
dbSNP: rs80357150
rs80357150
BRCA1
0.925 0.200 17 43106528 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 8 2001 2019