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: rs63750899
rs63750899
MLH1
7 0.851 0.200 3 37048562 missense variant C/G;T snv 0.700 1.000 15 1996 2015
dbSNP: rs63751221
rs63751221
MLH1
4 0.925 0.160 3 37001045 stop gained C/T snv 7.0E-06 0.700 1.000 15 1999 2018
dbSNP: rs730881674
rs730881674
CDKN2A
2 1.000 0.120 9 21971116 frameshift variant GTGAGAGTGGCGGGGTCGG/- delins 0.700 1.000 15 1995 2015
dbSNP: rs80357276
rs80357276
BRCA1
3 0.925 0.200 17 43115738 missense variant T/A;C snv 0.700 1.000 15 2001 2015
dbSNP: rs80359035
rs80359035
BRCA2
4 0.882 0.200 13 32363211 stop gained C/A;G;T snv 0.700 1.000 15 2004 2018
dbSNP: rs80359351
rs80359351
BRCA2
6 0.851 0.200 13 32337161 frameshift variant ACAA/- delins 2.1E-05 0.700 1.000 15 2000 2017
dbSNP: rs878853650
rs878853650
CDKN2A
3 0.925 0.120 9 21974733 missense variant A/G snv 0.700 1.000 15 1995 2010
dbSNP: rs11571658
rs11571658
BRCA2
6 0.851 0.240 13 32340630 frameshift variant TT/- del 2.8E-05 0.700 1.000 14 1996 2016
dbSNP: rs515726123
rs515726123
PALB2
4 0.882 0.080 16 23636036 frameshift variant CT/- delins 1.4E-05 0.700 1.000 14 2010 2017
dbSNP: rs55832599
rs55832599
TP53
18 0.716 0.360 17 7673821 missense variant G/A snv 0.700 1.000 14 1992 2017
dbSNP: rs55851803
rs55851803
BRCA1
3 0.925 0.200 17 43106477 splice donor variant C/G;T snv 0.700 1.000 14 2000 2018
dbSNP: rs587782529
rs587782529
TP53
8 0.851 0.200 17 7670700 missense variant G/A;C snv 0.700 1.000 14 1997 2015
dbSNP: rs80357034
rs80357034
BRCA1
5 0.882 0.200 17 43067610 missense variant G/A;C;T snv 0.700 1.000 14 2001 2017
dbSNP: rs80357258
rs80357258
BRCA1
2 1.000 0.200 17 43045712 missense variant T/C snv 0.700 1.000 14 2003 2016
dbSNP: rs80359014
rs80359014
BRCA2
10 0.763 0.320 13 32362596 missense variant A/G;T snv 0.700 1.000 14 2000 2018
dbSNP: rs80359405
rs80359405
BRCA2
5 0.851 0.200 13 32338201 frameshift variant GT/- delins 0.700 1.000 14 1996 2015
dbSNP: rs397516441
rs397516441
VHL
4 0.882 0.200 3 10149790 missense variant A/G snv 0.700 1.000 13 1998 2014
dbSNP: rs397516836
rs397516836
SDHB
5 0.882 0.080 1 17024015 stop gained C/A;T snv 0.700 1.000 13 2006 2018
dbSNP: rs5030622
rs5030622
VHL
3 0.925 0.160 3 10149809 stop gained C/A;G snv 0.700 1.000 13 1995 2016
dbSNP: rs63751017
rs63751017
MSH6 ; FBXO11
6 0.851 0.240 2 47800714 stop gained C/A;T snv 1.4E-05 0.700 1.000 13 2003 2017
dbSNP: rs63751477
rs63751477
MSH2
3 0.925 0.160 2 47478306 stop gained G/A;T snv 0.700 1.000 13 1999 2014
dbSNP: rs63751657
rs63751657
MLH1
4 0.925 0.160 3 37042331 splice region variant G/A;C;T snv 0.700 1.000 13 1996 2015
dbSNP: rs80356880
rs80356880
BRCA1
5 0.851 0.080 17 43115750 missense variant G/C;T snv 0.700 1.000 13 2001 2015
dbSNP: rs80357112
rs80357112
BRCA1
4 0.882 0.080 17 43051063 missense variant C/A;G;T snv 0.700 1.000 13 2004 2016
dbSNP: rs80357868
rs80357868
BRCA1
5 0.851 0.200 17 43091772 frameshift variant GACA/- delins 1.4E-05 0.700 1.000 13 1994 2017