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: 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 2019 2019
dbSNP: rs11866002
rs11866002
CNOT1
4 0.851 0.120 16 58553833 synonymous variant C/T snv 0.35 0.39 0.010 1.000 1 2015 2015
dbSNP: rs1061970
rs1061970
COL1A1
3 0.882 0.040 17 50184491 3 prime UTR variant A/G snv 0.13 0.010 1.000 1 2014 2014
dbSNP: rs2075559
rs2075559
COL1A1
3 0.882 0.040 17 50189930 intron variant G/A;C;T snv 0.52; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.020 1.000 2 2011 2019
dbSNP: rs3087243
rs3087243
CTLA4
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.010 1.000 1 2011 2011
dbSNP: rs4553808
rs4553808
CTLA4
28 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs5742909
rs5742909
CTLA4
40 0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02 0.010 1.000 1 2011 2011
dbSNP: rs1233296947
rs1233296947
CTNNB1
5 0.851 0.080 3 41225746 missense variant G/A snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs10019009
rs10019009
DMP1 ; LOC105377323
4 0.851 0.080 4 87661983 missense variant A/G;T snv 4.0E-06; 0.29 0.010 1.000 1 2016 2016
dbSNP: rs1800541
rs1800541
EDN1
5 0.851 0.120 6 12288986 upstream gene variant T/G snv 0.24 0.020 1.000 2 2013 2014
dbSNP: rs2070699
rs2070699
EDN1
14 0.752 0.080 6 12292539 intron variant G/C;T snv 0.45 0.020 0.500 2 2013 2014
dbSNP: rs5370
rs5370
EDN1
37 0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21 0.010 1.000 1 2014 2014
dbSNP: rs56307747
rs56307747
ELN ; ELN-AS1
8 0.776 0.160 7 74059952 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1058808
rs1058808
ERBB2
27 0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52 0.010 1.000 1 2015 2015
dbSNP: rs1136201
rs1136201
ERBB2
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.100 0.818 11 2012 2018
dbSNP: rs2298881
rs2298881
ERCC1
25 0.653 0.400 19 45423658 intron variant C/A;T snv 0.020 1.000 2 2015 2015
dbSNP: rs3212986
rs3212986
ERCC1 ; CD3EAP
42 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 0.030 0.667 3 2017 2018
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.100 0.833 12 2012 2018
dbSNP: rs171140
rs171140
ERCC2
6 0.807 0.080 19 45361744 non coding transcript exon variant C/A snv 0.58 0.64 0.010 1.000 1 2018 2018
dbSNP: rs756340448
rs756340448
ERCC2
8 0.790 0.240 19 45369135 synonymous variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.080 0.625 8 2012 2018
dbSNP: rs4150441
rs4150441
ERCC3
5 0.882 0.040 2 127283339 intron variant T/C snv 0.37 0.020 1.000 2 2016 2017
dbSNP: rs4150506
rs4150506
ERCC3
4 0.851 0.120 2 127262970 intron variant G/A snv 0.18 0.010 < 0.001 1 2016 2016