Source: ALL

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: rs80357112
rs80357112
BRCA1
0.882 0.080 17 43051063 missense variant C/A;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 13 2004 2016
dbSNP: rs80357868
rs80357868
BRCA1
0.851 0.200 17 43091772 frameshift variant GACA/- delins 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 13 1994 2017
dbSNP: rs80358027
rs80358027
BRCA1
0.925 0.200 17 43082403 splice donor variant C/A;G;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 13 2004 2016
dbSNP: rs55770810
rs55770810
BRCA1
0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 12 2001 2017
dbSNP: rs80357164
rs80357164
BRCA1
0.851 0.200 17 43115745 missense variant A/C;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 12 2003 2016
dbSNP: rs80357569
rs80357569
BRCA1
0.882 0.200 17 43094515 frameshift variant T/-;TT delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 12 1994 2017
dbSNP: rs80357729
rs80357729
BRCA1
0.851 0.200 17 43091903 frameshift variant -/T delins 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 12 2006 2017
dbSNP: rs80357867
rs80357867
BRCA1
0.882 0.200 17 43063346 frameshift variant CTTT/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 12 1997 2017
dbSNP: rs80358044
rs80358044
BRCA1
0.827 0.200 17 43074330 splice donor variant C/A;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 12 2001 2017
dbSNP: rs80358083
rs80358083
BRCA1
0.925 0.200 17 43106453 splice region variant T/A;C snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 12 1997 2014
dbSNP: rs28897672
rs28897672
BRCA1
0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 11 2006 2017
dbSNP: rs80357281
rs80357281
BRCA1
0.882 0.200 17 43051104 missense variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 11 2004 2016
dbSNP: rs80357438
rs80357438
BRCA1 ; NBR2
0.851 0.200 17 43124032 stop gained A/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 11 1998 2016
dbSNP: rs80357636
rs80357636
BRCA1
0.925 0.200 17 43092845 frameshift variant TT/-;T;TTT delins 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 11 1996 2017
dbSNP: rs80357714
rs80357714
BRCA1
0.925 0.200 17 43094150 frameshift variant -/T delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 11 1996 2017
dbSNP: rs80356936
rs80356936
BRCA1
0.851 0.200 17 43104260 stop gained A/C;G;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 2007 2018
dbSNP: rs80356993
rs80356993
BRCA1
0.925 0.120 17 43063937 missense variant A/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 2001 2011
dbSNP: rs80357074
rs80357074
BRCA1
17 43057075 missense variant C/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 1998 2011
dbSNP: rs80357382
rs80357382
BRCA1
0.763 0.240 17 43106457 missense variant T/C snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 1999 2017
dbSNP: rs80357508
rs80357508
BRCA1
0.882 0.200 17 43091463 frameshift variant GATT/- delins 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 1995 2017
dbSNP: rs80357609
rs80357609
BRCA1
0.851 0.200 17 43091827 frameshift variant TTTAC/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 1995 2016
dbSNP: rs80357688
rs80357688
BRCA1
0.925 0.200 17 43093460 frameshift variant TT/-;T delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 1998 2015
dbSNP: rs80357727
rs80357727
BRCA1
0.925 0.200 17 43091489 frameshift variant CT/- delins 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 1998 2016
dbSNP: rs80357888
rs80357888
BRCA1
0.882 0.200 17 43094023 frameshift variant ATTTA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 1997 2016
dbSNP: rs80357919
rs80357919
BRCA1
0.925 0.200 17 43094685 frameshift variant TGAG/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 1998 2017