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: rs11515
rs11515
CDKN2A ; CDKN2A-DT
6 0.882 0.040 9 21968200 3 prime UTR variant C/A;G snv 4.0E-06; 0.88 0.010 1.000 1 2011 2011
dbSNP: rs6971
rs6971
TSPO
11 0.742 0.200 22 43162920 missense variant A/G snv 0.76 0.75 0.010 1.000 1 2017 2017
dbSNP: rs6062302
rs6062302
RTEL1 ; RTEL1-TNFRSF6B
4 0.882 0.040 20 63689615 synonymous variant T/C snv 0.74 0.81 0.700 1.000 1 2015 2015
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2013 2013
dbSNP: rs8957
rs8957
SLC2A4RG
2 0.925 0.040 20 63742354 missense variant G/T snv 0.71 0.78 0.010 1.000 1 2017 2017
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2015 2015
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 2 2013 2016
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2013 2013
dbSNP: rs1801198
rs1801198
TCN2
26 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 0.010 1.000 1 2006 2006
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2019 2019
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.020 0.500 2 2009 2020
dbSNP: rs2235544
rs2235544
DIO1
14 0.742 0.240 1 53909897 intron variant C/A;T snv 0.53; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 < 0.001 2 2005 2020
dbSNP: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2014 2014
dbSNP: rs2235573
rs2235573
SLC16A8
4 0.882 0.040 22 38081923 synonymous variant G/A snv 0.47 0.46 0.700 1.000 1 2017 2017
dbSNP: rs660118
rs660118
SART1
6 0.807 0.080 11 65967703 missense variant G/C snv 0.46 0.36 0.010 1.000 1 2011 2011
dbSNP: rs4652
rs4652
LGALS3
12 0.752 0.200 14 55138318 missense variant A/C snv 4.1E-06; 0.45 0.57 0.010 1.000 1 2019 2019
dbSNP: rs4644
rs4644
LGALS3
14 0.732 0.320 14 55138217 missense variant C/A;G snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.030 1.000 3 2010 2018
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2014 2014
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2008 2008
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.030 1.000 3 2012 2016
dbSNP: rs2736098
rs2736098
TERT
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.010 1.000 1 2011 2011
dbSNP: rs1957106
rs1957106
NFKBIA
4 0.851 0.040 14 35404564 synonymous variant G/A snv 0.28 0.25 0.010 1.000 1 2014 2014
dbSNP: rs11558961
rs11558961
GFAP
2 0.925 0.040 17 44907319 3 prime UTR variant G/C;T snv 0.27; 1.2E-05 0.010 1.000 1 2018 2018