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: rs708111
rs708111 		4 0.882 0.120 1 228003664 upstream gene variant G/A snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs748500299
rs748500299
PTGS2
8 0.790 0.200 1 186675960 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs751763046
rs751763046
EXO1
8 0.790 0.200 1 241885375 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs851797
rs851797
EXO1
13 0.752 0.240 1 241889740 3 prime UTR variant A/G snv 0.72 0.010 1.000 1 2009 2009
dbSNP: rs9350
rs9350
EXO1
16 0.742 0.240 1 241885372 missense variant C/T snv 0.21 0.19 0.010 1.000 1 2009 2009
dbSNP: rs1045487
rs1045487
CASP8
2 1.000 0.080 2 201284973 synonymous variant G/A snv 9.5E-02 0.10 0.010 1.000 1 2017 2017
dbSNP: rs11685387
rs11685387
XRCC5
9 0.776 0.240 2 216109091 splice region variant C/T snv 0.30 0.010 1.000 1 2009 2009
dbSNP: rs13010627
rs13010627
CASP10
10 0.807 0.280 2 201209375 missense variant G/A snv 4.2E-02 4.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs3834129
rs3834129
CASP8
38 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 0.010 1.000 1 2019 2019
dbSNP: rs6547741
rs6547741
GPN1
7 0.807 0.080 2 27633057 intron variant G/A snv 0.53 0.710 1.000 1 2016 2016
dbSNP: rs828907
rs828907
XRCC5
6 0.827 0.160 2 216108009 intron variant G/T snv 0.37 0.010 1.000 1 2009 2009
dbSNP: rs9288518
rs9288518
XRCC5
9 0.776 0.240 2 216196997 intron variant A/G snv 0.35 0.010 1.000 1 2009 2009
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.020 1.000 2 2011 2015
dbSNP: rs11130760
rs11130760
FHIT
2 1.000 0.080 3 60210809 intron variant G/T snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs1208415127
rs1208415127
RASSF1
6 0.827 0.160 3 50331654 missense variant G/A snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1799864
rs1799864
CCR2
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2011 2011
dbSNP: rs2120243
rs2120243
VEPH1
3 0.925 0.200 3 157429779 intron variant A/C snv 0.59 0.010 1.000 1 2019 2019
dbSNP: rs3816527
rs3816527
PTX3 ; VEPH1
9 0.882 0.160 3 157437525 missense variant C/A snv 0.64 0.64 0.010 1.000 1 2019 2019
dbSNP: rs771266873
rs771266873
GORASP1
2 1.000 0.080 3 39098828 missense variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs9849237
rs9849237
CNTN4
3 1.000 0.080 3 2633505 intron variant C/T snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs9879992
rs9879992
GSK3B
4 0.882 0.120 3 119993874 intron variant A/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.020 1.000 2 2018 2019
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.700 1.000 1 2016 2016
dbSNP: rs13140012
rs13140012
MTNR1A ; LOC105377596
6 0.827 0.320 4 186544404 intron variant T/A snv 0.41 0.010 1.000 1 2015 2015
dbSNP: rs2046463
rs2046463
LOC105377555
3 1.000 0.080 4 176681548 intron variant G/A;C snv 0.010 1.000 1 2013 2013