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: rs1444192401
rs1444192401
KRT7
4 0.882 0.120 12 52235347 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1456079929
rs1456079929
PGR
5 0.851 0.120 11 101042001 missense variant C/A snv 8.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
41 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs156697
rs156697
GSTO2
25 0.672 0.560 10 104279427 missense variant A/G;T snv 0.35 0.010 1.000 1 2010 2010
dbSNP: rs1760944
rs1760944
APEX1 ; OSGEP
26 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 0.010 < 0.001 1 2013 2013
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.710 1.000 1 2006 2006
dbSNP: rs1799977
rs1799977
MLH1
28 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.010 1.000 1 2015 2015
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2002 2002
dbSNP: rs1801200
rs1801200
ERBB2
7 0.790 0.200 17 39723335 missense variant A/G;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs1801243
rs1801243
ATP7B
4 0.851 0.200 13 51974004 missense variant A/C;T snv 0.44; 2.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs185229225
rs185229225
BOD1L1
4 0.851 0.120 4 13607505 intron variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs186724
rs186724
AHCYL1
3 0.882 0.120 1 110018293 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs200928781
rs200928781
CHEK2
11 0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2006 2006
dbSNP: rs2073495
rs2073495
LTF
4 0.851 0.200 3 46439467 missense variant C/A;G snv 4.9E-04; 0.33 0.010 1.000 1 2011 2011
dbSNP: rs2107425
rs2107425
MRPL23 ; H19
16 0.732 0.280 11 1999845 intron variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs2228611
rs2228611
DNMT1
19 0.708 0.520 19 10156401 synonymous variant T/A;C snv 0.52 0.010 1.000 1 2013 2013
dbSNP: rs2229109
rs2229109
ABCB1
8 0.807 0.240 7 87550493 missense variant C/A;T snv 2.7E-02 0.010 1.000 1 2008 2008
dbSNP: rs2273535
rs2273535
AURKA
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.010 1.000 1 2004 2004
dbSNP: rs2424932
rs2424932
DNMT3B
5 0.827 0.200 20 32808730 3 prime UTR variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs267607911
rs267607911
MSH2
8 0.851 0.200 2 47403192 start lost A/C;G;T snv 5.1E-05; 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2015 2015
dbSNP: rs28897696
rs28897696
BRCA1
11 0.807 0.200 17 43063903 missense variant G/A;C;T snv 2.8E-05; 4.0E-06; 2.0E-05 0.010 1.000 1 1996 1996
dbSNP: rs28997576
rs28997576
BARD1
11 0.776 0.160 2 214752454 missense variant C/G;T snv 1.5E-02 0.010 1.000 1 2006 2006