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: rs29232
rs29232 		4 0.925 0.240 6 29643654 intergenic variant C/T snv 0.39 0.740 1.000 5 2009 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: rs2517713
rs2517713
HLA-A
2 1.000 0.120 6 29950322 downstream gene variant G/A;T snv 0.710 1.000 4 2009 2015
dbSNP: rs9510787
rs9510787
TNFRSF19
2 1.000 0.120 13 23631056 intron variant A/G snv 0.20 0.730 1.000 4 2010 2018
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: rs2894207
rs2894207
HLA-B ; LINC02571
8 0.882 0.160 6 31295974 intron variant T/C snv 0.20 0.720 1.000 3 2010 2018
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: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.720 1.000 3 2010 2016
dbSNP: rs5009448
rs5009448
HLA-A
1 1.000 0.120 6 29972711 upstream gene variant T/C snv 0.74 0.700 1.000 3 2009 2012
dbSNP: rs9260734
rs9260734
HLA-A
1 1.000 0.120 6 29964889 intergenic variant G/A snv 0.22 0.700 1.000 3 2009 2012
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2013 2015
dbSNP: rs13347
rs13347
CD44
12 0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv 0.020 1.000 2 2013 2014
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: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.020 1.000 2 2013 2016
dbSNP: rs189897
rs189897
ITGA9
2 1.000 0.120 3 37477054 intron variant T/A snv 0.13 0.710 1.000 2 2009 2010
dbSNP: rs2285053
rs2285053
MMP2
15 0.752 0.320 16 55478465 intron variant C/T snv 0.12 0.020 1.000 2 2007 2019
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.020 1.000 2 2015 2019
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: rs3131866
rs3131866 		1 1.000 0.120 6 29703963 downstream gene variant G/A snv 0.24 0.700 1.000 2 2009 2010
dbSNP: rs3813946
rs3813946
CR2
5 0.827 0.280 1 207454348 5 prime UTR variant T/C snv 0.16 0.020 1.000 2 2013 2016
dbSNP: rs417162
rs417162
HLA-A
2 1.000 0.120 6 29948728 downstream gene variant C/T snv 0.66 0.700 1.000 2 2009 2012