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: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2014 2014
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2017 2017
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2014 2014
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.020 1.000 2 2008 2013
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2015 2015
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.020 1.000 2 2017 2020
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2014 2014
dbSNP: rs61752717
rs61752717
MEFV
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2016 2016
dbSNP: rs1143627
rs1143627
IL1B
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.020 1.000 2 2008 2013
dbSNP: rs1050450
rs1050450
GPX1
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.010 1.000 1 2018 2018
dbSNP: rs1800449
rs1800449
LOX
33 0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17 0.030 0.667 3 2012 2015
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1760944
rs1760944
APEX1 ; OSGEP
26 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs121908120
rs121908120
WNT10A
19 0.701 0.280 2 218890289 missense variant T/A snv 1.4E-02 1.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs28940580
rs28940580
MEFV
17 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1052536
rs1052536
LIG3
10 0.776 0.200 17 35004556 3 prime UTR variant C/T snv 0.42 0.36 0.010 1.000 1 2015 2015
dbSNP: rs6609533
rs6609533
SYN1 ; TIMP1 ; MIR4769
7 0.790 0.200 X 47585887 3 prime UTR variant A/G;T snv 0.46 0.020 1.000 2 2017 2020
dbSNP: rs148957473
rs148957473
VSX1
5 0.827 0.160 20 25077762 missense variant T/C;G snv 2.7E-03 0.030 0.667 3 2008 2013
dbSNP: rs3735520
rs3735520
HGF
4 0.851 0.040 7 81771623 upstream gene variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs74315433
rs74315433
VSX1
3 0.882 0.080 20 25079460 missense variant C/A;T snv 1.0E-03; 1.9E-03 0.040 1.000 4 2002 2017
dbSNP: rs6795735
rs6795735
ADAMTS9-AS2
7 0.882 0.120 3 64719689 intron variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs779148597
rs779148597
ZEB1
3 0.882 0.080 10 31521255 missense variant G/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs4954218
rs4954218
MAP3K19
5 0.925 0.080 2 135045855 intron variant G/T snv 0.83 0.740 1.000 4 2012 2017
dbSNP: rs74315432
rs74315432
VSX1
2 0.925 0.040 20 25079443 missense variant G/A;T snv 2.0E-05; 3.6E-05 0.030 0.667 3 2002 2011
dbSNP: rs9938149
rs9938149 		4 0.925 0.160 16 88298034 intron variant C/A snv 0.66 0.030 0.667 3 2013 2017