Source: CURATED

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: rs80357524
rs80357524
BRCA1
0.925 0.200 17 43093098 frameshift variant G/-;GG delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 10 2005 2015
dbSNP: rs80357729
rs80357729
BRCA1
0.851 0.200 17 43091903 frameshift variant -/T delins 8.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 10 2005 2015
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
0.827 0.200 17 43124028 frameshift variant CT/-;CTCT delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 10 1995 2014
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: rs387906563
rs387906563
BRCA1
0.882 0.200 17 43094706 frameshift variant -/GCTCCACATG delins 6.0E-05; 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 1997 2011
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: rs80357596
rs80357596
BRCA1
0.925 0.200 17 43092849 frameshift variant CTTT/- delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 9 1996 2014
dbSNP: rs80357629
rs80357629
BRCA1
0.925 0.200 17 43045711 stop gained -/T delins 7.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 9 1994 2015
dbSNP: rs80357701
rs80357701
BRCA1
0.925 0.200 17 43092197 frameshift variant GCTT/- delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 9 1996 2013
dbSNP: rs80357711
rs80357711
BRCA1
0.882 0.200 17 43091496 frameshift variant T/- delins 4.2E-05
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 9 1996 2014
dbSNP: rs80357724
rs80357724
BRCA1
0.925 0.200 17 43094732 frameshift variant AA/-;A;AAA delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 9 1995 2013
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: rs80359876
rs80359876
BRCA1
0.851 0.200 17 43070932 frameshift variant TCTTCTGGGGTCAGGCCAG/- del
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 9 1997 2014
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
dbSNP: rs80357600
rs80357600
BRCA1
0.882 0.200 17 43093857 frameshift variant TT/-;T;TTT delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 8 1997 2018
dbSNP: rs80357635
rs80357635
BRCA1
0.882 0.200 17 43092302 frameshift variant CT/- delins 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 1998 2012
dbSNP: rs80358047
rs80358047
BRCA1
0.925 0.200 17 43099773 splice donor variant 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 1997 2015
dbSNP: rs80358061
rs80358061
BRCA1
0.882 0.200 17 43104967 intron variant A/C snv 1.2E-05 7.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 8 1994 2013
dbSNP: rs80358150
rs80358150
BRCA1
0.925 0.200 17 43057051 splice donor variant C/A;G;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 2014