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: 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: rs2297440
rs2297440
RTEL1 ; RTEL1-TNFRSF6B
10 0.763 0.080 20 63680946 intron variant T/C snv 0.81 0.730 1.000 5 2010 2018
dbSNP: rs10464870
rs10464870
CCDC26
3 0.882 0.040 8 129465577 intron variant C/T snv 0.80 0.010 1.000 1 2010 2010
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: 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: 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: 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: 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: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2013 2013
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.020 1.000 2 2015 2018
dbSNP: rs2562152
rs2562152
RHBDF1
4 0.882 0.040 16 73898 intron variant A/T snv 0.67 0.700 1.000 1 2017 2017
dbSNP: rs7003908
rs7003908
PRKDC
16 0.716 0.320 8 47858141 intron variant C/A snv 0.66 0.010 1.000 1 2009 2009
dbSNP: rs4977756
rs4977756
CDKN2B-AS1
24 0.683 0.440 9 22068653 intron variant G/A snv 0.64 0.010 1.000 1 2016 2016
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: rs2440472
rs2440472
AMFR
5 0.827 0.080 16 56402912 intron variant A/G snv 0.61 0.010 1.000 1 2018 2018
dbSNP: rs1005230
rs1005230
VEGFA
5 0.827 0.040 6 43768759 upstream gene variant T/C snv 0.60 0.010 1.000 1 2018 2018
dbSNP: rs145929329
rs145929329
CDKN2B-AS1
3 0.882 0.040 9 22066213 intron variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTTTTT delins 0.58 0.700 1.000 1 2015 2015
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: 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: rs723527
rs723527
EGFR
4 0.882 0.040 7 55067179 intron variant A/G snv 0.53 0.700 1.000 2 2017 2018
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.020 1.000 2 2011 2015
dbSNP: rs3788266
rs3788266
S100B
12 0.732 0.160 21 46606442 upstream gene variant G/A snv 0.50 0.010 1.000 1 2011 2011
dbSNP: rs12230172
rs12230172
LOC105369844
4 0.882 0.040 12 75848895 intron variant A/G snv 0.48 0.010 1.000 1 2015 2015
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: rs3829382
rs3829382
FLT3
2 0.925 0.040 13 28003551 3 prime UTR variant G/T snv 0.46 0.010 1.000 1 2013 2013