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: rs80359584
rs80359584
BRCA2
8 0.807 0.280 13 32340757 frameshift variant CTTAA/- delins 4.2E-06 1.4E-05 0.700 1.000 1 2004 2004
dbSNP: rs80358451
rs80358451
BRCA2
2 0.925 0.160 13 32333140 missense variant T/G snv 5.6E-05 6.3E-05 0.700 0
dbSNP: rs11644043
rs11644043
BRD7
2 0.925 0.120 16 50327466 intron variant T/C snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs782128510
rs782128510
C17orf97 ; LOC105371430
2 0.925 0.120 17 410373 missense variant C/A;G snv 7.6E-05; 8.4E-06 0.010 1.000 1 2014 2014
dbSNP: rs2255280
rs2255280
C9 ; DAB2
2 0.925 0.120 5 39394887 intron variant C/A snv 0.98 0.700 1.000 1 2011 2011
dbSNP: rs1045485
rs1045485
CASP8
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.010 1.000 1 2009 2009
dbSNP: rs1800843
rs1800843
CCKBR
2 0.925 0.120 11 6270835 synonymous variant C/A;G snv 0.16; 4.0E-06 0.19 0.010 1.000 1 2015 2015
dbSNP: rs1322648460
rs1322648460
CD44 ; LOC100507144
9 0.776 0.320 11 35139332 frameshift variant G/- delins 0.010 1.000 1 2011 2011
dbSNP: rs1129055
rs1129055
CD86
15 0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25 0.010 1.000 1 2012 2012
dbSNP: rs17281995
rs17281995
CD86
11 0.763 0.360 3 122120794 3 prime UTR variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs1336539869
rs1336539869
CDK4
2 0.925 0.120 12 57751681 missense variant C/G snv 0.010 1.000 1 2018 2018
dbSNP: rs2206734
rs2206734
CDKAL1
6 0.882 0.160 6 20694653 intron variant C/T snv 0.20 0.010 1.000 1 2014 2014
dbSNP: rs1801270
rs1801270
CDKN1A
22 0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs2066827
rs2066827
CDKN1B ; GPR19
21 0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26 0.010 1.000 1 2010 2010
dbSNP: rs104894094
rs104894094
CDKN2A
12 0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 0.010 1.000 1 2004 2004
dbSNP: rs1339638227
rs1339638227
CDKN2A
2 0.925 0.120 9 21971119 missense variant T/C snv 4.3E-06 0.010 1.000 1 2007 2007
dbSNP: rs786204195
rs786204195
CDKN2A
4 0.851 0.200 9 21974686 missense variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1537373
rs1537373
CDKN2B-AS1
3 0.925 0.120 9 22103342 intron variant T/G snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs6475609
rs6475609
CDKN2B-AS1
2 0.925 0.120 9 22106272 intron variant A/C;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs3217992
rs3217992
CDKN2B ; CDKN2B-AS1
22 0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32 0.010 1.000 1 2016 2016
dbSNP: rs488087
rs488087
CEL
2 0.925 0.120 9 133071212 synonymous variant C/A;T snv 0.11 0.26 0.010 1.000 1 2015 2015
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2010 2010
dbSNP: rs1051730
rs1051730
CHRNA3
43 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 0.010 < 0.001 1 2011 2011
dbSNP: rs3749474
rs3749474
CLOCK ; TMEM165
17 0.724 0.320 4 55434518 3 prime UTR variant C/T snv 0.33 0.010 1.000 1 2017 2017
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.740 1.000 5 2010 2015