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: rs80357718
rs80357718
BRCA1
3 0.925 0.200 17 43071198 frameshift variant AAGAG/- delins 0.700 0
dbSNP: rs80357724
rs80357724
BRCA1
4 0.925 0.200 17 43094732 frameshift variant AA/-;A;AAA delins 0.700 0
dbSNP: rs80357760
rs80357760
BRCA1
3 0.925 0.120 17 43063941 frameshift variant AA/-;AAA delins 0.700 0
dbSNP: rs80357888
rs80357888
BRCA1
5 0.882 0.200 17 43094023 frameshift variant ATTTA/- delins 0.700 0
dbSNP: rs80357906
rs80357906
BRCA1
8 0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04 0.700 0
dbSNP: rs80358044
rs80358044
BRCA1
7 0.827 0.200 17 43074330 splice donor variant C/A;G;T snv 0.700 0
dbSNP: rs80358981
rs80358981
BRCA2
7 0.827 0.200 13 32356550 stop gained C/T snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs80359222
rs80359222
BRCA2
3 0.925 0.200 13 32394913 stop gained A/G;T snv 0.700 0
dbSNP: rs80359550
rs80359550
BRCA2
8 0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04 0.700 0
dbSNP: rs864622401
rs864622401
BRCA2
4 0.882 0.200 13 32339092 frameshift variant -/TG delins 0.700 0
dbSNP: rs876659036
rs876659036
PALB2
3 1.000 0.080 16 23622997 stop gained C/A;G snv 8.0E-06; 8.0E-06 0.700 0
dbSNP: rs878853559
rs878853559
BRCA2
4 0.925 0.200 13 32336450 stop gained C/T snv 0.700 0
dbSNP: rs879255309
rs879255309
BRCA2
4 0.925 0.200 13 32338238 stop gained C/T snv 0.700 0
dbSNP: rs886040109
rs886040109
BRCA1
2 1.000 17 43092265 frameshift variant A/- delins 0.700 0
dbSNP: rs41293463
rs41293463
BRCA1
9 0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05 0.010 1.000 1 1999 1999
dbSNP: rs1057517590
rs1057517590
BRCA1
2 1.000 17 43063370 frameshift variant A/- del 0.700 1.000 1 2004 2004
dbSNP: rs1555284442
rs1555284442
BRCA2
1 13 32340234 frameshift variant G/- del 0.700 1.000 1 2004 2004
dbSNP: rs1555582520
rs1555582520
BRCA1
1 17 43076486 splice donor variant A/G snv 0.700 1.000 1 2004 2004
dbSNP: rs1555913881
rs1555913881
CHEK2
1 22 28695841 frameshift variant T/- del 0.700 1.000 1 2004 2004
dbSNP: rs397507643
rs397507643
BRCA2
2 1.000 13 32337181 frameshift variant TTAA/- delins 0.700 1.000 1 2004 2004
dbSNP: rs397507828
rs397507828
BRCA2
4 1.000 13 32340440 stop gained G/T snv 0.700 1.000 1 2004 2004
dbSNP: rs483353111
rs483353111
BRCA2
3 0.925 0.200 13 32336949 frameshift variant A/- delins 0.700 1.000 1 2004 2004
dbSNP: rs80357167
rs80357167
BRCA1
2 1.000 17 43094066 stop gained C/A;T snv 0.700 1.000 1 2004 2004
dbSNP: rs80357481
rs80357481
BRCA1
5 0.882 0.200 17 43094317 stop gained G/C;T snv 0.700 1.000 1 2004 2004
dbSNP: rs80357787
rs80357787
BRCA1
4 0.925 0.200 17 43091008 frameshift variant TC/- delins 0.700 1.000 1 2004 2004