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: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.040 0.750 4 2007 2019
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.030 1.000 3 2011 2019
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.020 1.000 2 2015 2019
dbSNP: rs7034162
rs7034162
NFIB
4 0.882 0.040 9 14190288 intron variant A/T snv 0.81 0.720 1.000 2 2015 2019
dbSNP: rs1215600806
rs1215600806
ALPL
4 0.851 0.120 1 21564100 missense variant T/C snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs1273593548
rs1273593548
PIK3CG
19 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs1416572796
rs1416572796
ALPL
4 0.851 0.120 1 21568170 missense variant G/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs143358506
rs143358506
ALPL
4 0.851 0.120 1 21560674 missense variant T/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs231755
rs231755 		3 0.882 0.040 2 203888846 regulatory region variant G/C snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs3217992
rs3217992
CDKN2B ; CDKN2B-AS1
22 0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs367597251
rs367597251
MDM2
10 0.807 0.080 12 68839587 missense variant A/G snv 1.5E-04 5.1E-04 0.010 1.000 1 2019 2019
dbSNP: rs4730222
rs4730222
HBP1
4 0.851 0.040 7 107169848 5 prime UTR variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs756673959
rs756673959
MDM2
3 0.882 0.040 12 68828867 stop lost T/G snv 0.010 1.000 1 2019 2019
dbSNP: rs764191858
rs764191858
PDLIM3
3 0.882 0.040 4 185502359 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs770771727
rs770771727
UTRN
3 0.882 0.040 6 144751941 missense variant A/C;G snv 4.5E-05; 2.5E-05 0.010 1.000 1 2019 2019
dbSNP: rs779591039
rs779591039
SLPI ; LOC105372630
3 0.882 0.040 20 45253712 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.100 0.833 12 2012 2018
dbSNP: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.100 0.818 11 2012 2018
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.080 0.625 8 2012 2018
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.040 0.750 4 2015 2018
dbSNP: rs3212986
rs3212986
ERCC1 ; CD3EAP
42 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 0.030 0.667 3 2017 2018
dbSNP: rs1047768
rs1047768
ERCC5 ; BIVM-ERCC5
20 0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59 0.020 1.000 2 2013 2018
dbSNP: rs12146774
rs12146774
LOC105370025
1 1.000 0.040 12 119235698 intron variant C/T snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs12879262
rs12879262
MIR4309
3 0.882 0.040 14 102539710 non coding transcript exon variant G/C snv 0.12 0.11 0.010 1.000 1 2018 2018
dbSNP: rs12894467
rs12894467
MIR300 ; MIR1185-1
6 0.807 0.080 14 101041390 non coding transcript exon variant C/T snv 0.51 0.50 0.010 1.000 1 2018 2018