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: rs738722
rs738722
CHEK2
4 0.882 0.120 22 28734024 intron variant T/C snv 0.67 0.010 1.000 1 2012 2012
dbSNP: rs2236142
rs2236142
CHEK2 ; HSCB
6 0.827 0.120 22 28741956 5 prime UTR variant G/C snv 0.66 0.010 1.000 1 2012 2012
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.010 1.000 1 2016 2016
dbSNP: rs465498
rs465498
CLPTM1L
9 0.776 0.200 5 1325688 non coding transcript exon variant A/G snv 0.46 0.010 1.000 1 2015 2015
dbSNP: rs115510139
rs115510139
COL6A3
6 0.827 0.120 2 237331726 intron variant A/T snv 0.60 0.010 1.000 1 2019 2019
dbSNP: rs6720283
rs6720283
COL6A3
4 0.882 0.120 2 237401239 intron variant G/A snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs7436
rs7436
COL6A3
3 0.925 0.080 2 237324168 3 prime UTR variant T/A snv 0.10 0.010 1.000 1 2019 2019
dbSNP: rs3802842
rs3802842
COLCA2 ; COLCA1
25 0.695 0.280 11 111300984 intron variant C/A snv 0.71 0.010 1.000 1 2015 2015
dbSNP: rs3829868
rs3829868
CRNN ; FLG-AS1
2 0.925 0.080 1 152409644 missense variant C/T snv 0.21 0.15 0.700 0
dbSNP: rs1057519886
rs1057519886
CTNNB1
11 0.752 0.240 3 41224609 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913228
rs121913228
CTNNB1
14 0.742 0.200 3 41224621 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913400
rs121913400
CTNNB1
26 0.683 0.360 3 41224610 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913403
rs121913403
CTNNB1
23 0.683 0.240 3 41224622 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs4646903
rs4646903
CYP1A1
36 0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18 0.020 1.000 2 2014 2019
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs750408412
rs750408412
CYP2E1
3 0.925 0.080 10 133538938 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs2031920
rs2031920
CYP2E1 ; LOC107984284
20 0.695 0.240 10 133526341 non coding transcript exon variant C/T snv 3.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs121912967
rs121912967
DCC
2 0.925 0.080 18 52906134 missense variant T/C snv 0.700 0
dbSNP: rs2228612
rs2228612
DNMT1
12 0.763 0.160 19 10162696 missense variant T/A;C;G snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
11 0.763 0.160 7 55181312 missense variant G/T snv 0.700 1.000 2 2006 2014
dbSNP: rs1057519889
rs1057519889
EP300
6 0.807 0.200 22 41169525 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2234922
rs2234922
EPHX1
42 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 0.060 0.500 6 2010 2015
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.050 0.600 5 2013 2015
dbSNP: rs121913468
rs121913468
ERBB2
7 0.827 0.160 17 39724008 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1595066
rs1595066
ERBB4
4 0.882 0.080 2 211377000 3 prime UTR variant C/T snv 0.28 0.010 1.000 1 2014 2014