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: rs2070584
rs2070584
SYN1 ; TIMP1 ; MIR4769
8 0.790 0.200 X 47587120 intron variant T/G snv 0.44 0.010 1.000 1 2013 2013
dbSNP: rs72552316
rs72552316
TLR7
3 0.882 0.120 X 12889591 3 prime UTR variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs1014971
rs1014971 		3 0.882 0.120 22 38936618 regulatory region variant C/T snv 0.55 0.720 1.000 3 2010 2016
dbSNP: rs2073859
rs2073859
LIMK2
4 0.882 0.120 22 31278567 3 prime UTR variant G/A snv 4.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 < 0.001 1 2016 2016
dbSNP: rs56228771
rs56228771
SGSM3 ; MRTFA
5 0.827 0.200 22 40410091 3 prime UTR variant -/GTCT;GTCTGTCT delins 0.010 1.000 1 2018 2018
dbSNP: rs9619311
rs9619311
TIMP3 ; SYN3
4 0.851 0.160 22 32800707 intron variant T/C snv 0.40 0.010 1.000 1 2013 2013
dbSNP: rs9624880
rs9624880
GRK3
3 0.882 0.120 22 25588025 intron variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs2836007
rs2836007
KCNJ6
2 0.925 0.120 21 37834589 intron variant C/T snv 0.21 0.010 1.000 1 2012 2012
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.020 1.000 2 2015 2017
dbSNP: rs3918242
rs3918242
MMP9
54 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.020 0.500 2 2013 2017
dbSNP: rs758272654
rs758272654
GNAS
50 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 0.020 1.000 2 2005 2005
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2010 2010
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
24 0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05 0.010 1.000 1 2010 2010
dbSNP: rs4813953
rs4813953
LINC02871
1 1.000 0.120 20 11010490 intron variant T/C snv 0.63 0.700 1.000 1 2014 2014
dbSNP: rs6104690
rs6104690
LINC02871
2 0.925 0.120 20 11007451 intron variant G/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs62185668
rs62185668 		3 0.925 0.120 20 10981287 intron variant C/A snv 0.19 0.710 1.000 1 2014 2014
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.615 13 2004 2016
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 1.000 8 2007 2014
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.080 0.750 8 2008 2016
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.080 1.000 8 2007 2014
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.080 0.875 8 2007 2017
dbSNP: rs8102137
rs8102137 		3 0.882 0.120 19 29805946 regulatory region variant T/C snv 0.24 0.720 1.000 3 2010 2014
dbSNP: rs11671784
rs11671784
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
9 0.790 0.240 19 13836482 non coding transcript exon variant G/A snv 1.2E-02 1.2E-02 0.010 1.000 1 2015 2015
dbSNP: rs1189516787
rs1189516787
CEBPA ; CEBPA-DT
3 0.882 0.120 19 33301681 missense variant C/G snv 7.1E-06 0.010 1.000 1 2014 2014