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: 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 2018 2018
dbSNP: rs2231231
rs2231231
AQP3
5 0.851 0.240 9 33442988 non coding transcript exon variant A/C snv 0.67 0.69 0.010 1.000 1 2018 2018
dbSNP: rs5275
rs5275
PTGS2
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs3869062
rs3869062
HLA-A
1 1.000 0.120 6 29967114 downstream gene variant A/G snv 5.5E-02 0.720 1.000 5 2009 2017
dbSNP: rs6774494
rs6774494
MECOM
4 0.882 0.160 3 169364845 intron variant G/A snv 0.42 0.740 1.000 5 2010 2017
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.040 0.750 4 2013 2017
dbSNP: rs1412829
rs1412829
CDKN2B-AS1
14 0.742 0.400 9 22043927 intron variant A/G snv 0.28 0.720 1.000 3 2010 2017
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.030 1.000 3 2013 2017
dbSNP: rs2860580
rs2860580
HLA-A
2 1.000 0.120 6 29938914 upstream gene variant A/C;G;T snv 0.720 1.000 3 2010 2017
dbSNP: rs3129055
rs3129055 		2 1.000 0.120 6 29702484 regulatory region variant A/G snv 0.24 0.720 1.000 3 2009 2017
dbSNP: rs31489
rs31489
CLPTM1L
10 0.763 0.320 5 1342599 intron variant C/A snv 0.41 0.720 1.000 3 2010 2017
dbSNP: rs16896923
rs16896923
ETF1P1 ; ZNRD1ASP
1 1.000 0.120 6 30032910 non coding transcript exon variant T/C snv 5.0E-02 0.710 1.000 2 2010 2017
dbSNP: rs2076483
rs2076483
GABBR1
2 0.925 0.240 6 29603768 intron variant A/C;G snv 3.1E-05; 0.13 0.710 1.000 2 2010 2017
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.020 1.000 2 2008 2017
dbSNP: rs2752903
rs2752903
BPIFA1
1 1.000 0.120 20 33235584 upstream gene variant T/C;G snv 0.33 0.020 1.000 2 2012 2017
dbSNP: rs28421666
rs28421666 		2 1.000 0.120 6 32624960 upstream gene variant A/G snv 6.9E-02 0.710 1.000 2 2010 2017
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2017 2017
dbSNP: rs11081899
rs11081899
ZNF24
4 0.851 0.160 18 35344446 5 prime UTR variant G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2017 2017
dbSNP: rs2071559
rs2071559
KDR
26 0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs2279744
rs2279744
MDM2
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs243865
rs243865
MMP2
48 0.600 0.640 16 55477894 intron variant C/T snv 0.19 0.010 1.000 1 2017 2017
dbSNP: rs3126085
rs3126085
FLG-AS1
5 0.851 0.280 1 152328341 intron variant G/A snv 0.29 0.010 1.000 1 2017 2017
dbSNP: rs4804803
rs4804803
CD209
15 0.732 0.360 19 7747847 upstream gene variant A/G snv 0.26 0.010 1.000 1 2017 2017
dbSNP: rs5333
rs5333
EDNRA
5 0.827 0.280 4 147539885 synonymous variant T/C snv 0.28 0.34 0.010 1.000 1 2017 2017