Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80357446
rs80357446
BRCA1
6 0.827 0.200 17 43115729 missense variant C/A;T snv 0.700 1.000 24 2003 2019
dbSNP: rs1555600876
rs1555600876
BRCA1 ; NBR2
1 1.000 17 43124027 inframe deletion ACT/- del 0.700 1.000 18 1995 2014
dbSNP: rs80356929
rs80356929
BRCA1 ; NBR2
3 0.925 0.080 17 43124044 missense variant A/C;G;T snv 0.700 1.000 14 1996 2019
dbSNP: rs45444999
rs45444999
BRCA1
1 1.000 17 43063882 missense variant C/A;T snv 0.700 1.000 13 2001 2019
dbSNP: rs80357636
rs80357636
BRCA1
3 0.925 0.200 17 43092845 frameshift variant TT/-;T;TTT delins 7.0E-06 0.700 1.000 13 1996 2016
dbSNP: rs55851803
rs55851803
BRCA1
3 0.925 0.200 17 43106477 splice donor variant C/G;T snv 0.700 1.000 12 2000 2019
dbSNP: rs80356959
rs80356959
BRCA1
5 0.851 0.200 17 43045761 missense variant A/C;G snv 0.700 1.000 12 1996 2019
dbSNP: rs80357327
rs80357327
BRCA1
6 0.827 0.200 17 43115730 missense variant A/C;G;T snv 0.700 1.000 12 2001 2016
dbSNP: rs80357868
rs80357868
BRCA1
5 0.851 0.200 17 43091772 frameshift variant GACA/- delins 1.4E-05 0.700 1.000 12 1994 2012
dbSNP: rs45553935
rs45553935
BRCA1
7 0.851 0.200 17 43057122 missense variant A/C;G;T snv 0.700 1.000 11 2004 2016
dbSNP: rs80357281
rs80357281
BRCA1
4 0.882 0.200 17 43051104 missense variant A/G snv 0.700 1.000 11 2005 2016
dbSNP: rs80357508
rs80357508
BRCA1
4 0.882 0.200 17 43091463 frameshift variant GATT/- delins 1.4E-05 0.700 1.000 11 1994 2014
dbSNP: rs80358145
rs80358145
BRCA1
3 0.925 0.200 17 43047642 splice donor variant C/T snv 7.0E-06 0.700 1.000 11 2001 2015
dbSNP: rs80357524
rs80357524
BRCA1
3 0.925 0.200 17 43093098 frameshift variant G/-;GG delins 0.700 1.000 10 2005 2015
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
7 0.827 0.200 17 43124028 frameshift variant CT/-;CTCT delins 0.700 1.000 10 1995 2014
dbSNP: rs80357596
rs80357596
BRCA1
3 0.925 0.200 17 43092849 frameshift variant CTTT/- delins 0.700 1.000 9 1996 2014
dbSNP: rs80357629
rs80357629
BRCA1
3 0.925 0.200 17 43045711 stop gained -/T delins 7.0E-06 0.700 1.000 9 1994 2015
dbSNP: rs80357701
rs80357701
BRCA1
4 0.925 0.200 17 43092197 frameshift variant GCTT/- delins 0.700 1.000 9 1996 2013
dbSNP: rs80357711
rs80357711
BRCA1
4 0.882 0.200 17 43091496 frameshift variant T/- delins 4.2E-05 0.700 1.000 9 1996 2014
dbSNP: rs80357724
rs80357724
BRCA1
4 0.925 0.200 17 43094732 frameshift variant AA/-;A;AAA delins 0.700 1.000 9 1995 2013
dbSNP: rs80358163
rs80358163
BRCA1
4 0.882 0.200 17 43104968 intron variant T/C snv 0.700 1.000 9 1998 2019
dbSNP: rs80359876
rs80359876
BRCA1
5 0.851 0.200 17 43070932 frameshift variant TCTTCTGGGGTCAGGCCAG/- del 0.700 1.000 9 1997 2014
dbSNP: rs80357150
rs80357150
BRCA1
3 0.925 0.200 17 43106528 missense variant C/A;T snv 0.700 1.000 8 2001 2019
dbSNP: rs80357600
rs80357600
BRCA1
4 0.882 0.200 17 43093857 frameshift variant TT/-;T;TTT delins 0.700 1.000 8 1997 2018
dbSNP: rs80358047
rs80358047
BRCA1
3 0.925 0.200 17 43099773 splice donor variant A/T snv 0.700 1.000 8 1997 2015