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: rs10683701
rs10683701
OS9
1 1.000 0.120 12 57698305 intron variant -/ACTT delins 0.61 0.700 1.000 1 2015 2015
dbSNP: rs5844572
rs5844572
MIF ; MIF-AS1
11 0.752 0.360 22 23893562 intron variant -/ATTC delins 0.010 1.000 1 2020 2020
dbSNP: rs574503121
rs574503121 		1 1.000 0.120 6 33090337 downstream gene variant -/ATTT delins 4.3E-04 0.700 1.000 1 2011 2011
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2009 2009
dbSNP: rs373094430
rs373094430 		1 1.000 0.120 6 32622847 TF binding site variant -/C ins 0.700 1.000 1 2011 2011
dbSNP: rs201386475
rs201386475
HLA-DQB1
1 1.000 0.120 6 32668286 5 prime UTR variant -/CA delins 0.700 1.000 1 2011 2011
dbSNP: rs11439060
rs11439060
SPP1
1 1.000 0.120 4 87975555 non coding transcript exon variant -/G delins 0.020 0.500 2 2014 2015
dbSNP: rs112630268
rs112630268
LINC00452
1 1.000 0.120 13 113919624 non coding transcript exon variant -/G ins 0.700 1.000 1 2013 2013
dbSNP: rs397897657
rs397897657
ICOSLG
1 1.000 0.120 21 44230126 intron variant -/G delins 1.7E-04 0.700 1.000 1 2014 2014
dbSNP: rs56323213
rs56323213
ICOSLG
1 1.000 0.120 21 44230126 intron variant -/G delins 0.700 1.000 1 2014 2014
dbSNP: rs113652681
rs113652681 		1 1.000 0.120 6 33339623 downstream gene variant -/G;TG ins 0.700 1.000 1 2011 2011
dbSNP: rs3134069
rs3134069
TNFRSF11B ; COLEC10
11 0.776 0.320 8 118952749 upstream gene variant A/C snv 9.6E-02 0.050 0.800 5 2014 2019
dbSNP: rs2844479
rs2844479 		5 0.925 0.200 6 31605179 intergenic variant A/C snv 0.34 0.700 1.000 3 2007 2011
dbSNP: rs729302
rs729302 		6 0.827 0.160 7 128928906 intergenic variant A/C snv 0.28 0.030 1.000 3 2009 2013
dbSNP: rs1341239
rs1341239
PRL ; CASC15
8 0.776 0.360 6 22303975 intron variant A/C snv 0.65 0.020 1.000 2 2009 2019
dbSNP: rs3129871
rs3129871
HLA-DRA
5 0.827 0.320 6 32438565 upstream gene variant A/C snv 0.59 0.700 1.000 2 2007 2011
dbSNP: rs3132680
rs3132680
TRIM31 ; TRIM31-AS1
1 1.000 0.120 6 30105418 non coding transcript exon variant A/C snv 0.73 0.700 1.000 2 2007 2009
dbSNP: rs3219476
rs3219476
MUTYH
3 0.882 0.200 1 45336998 intron variant A/C snv 0.58 0.020 1.000 2 2015 2017
dbSNP: rs437179
rs437179
CYP21A2 ; SKIV2L
3 0.882 0.160 6 31961237 missense variant A/C snv 0.76 0.78 0.700 1.000 2 2007 2009
dbSNP: rs1042127
rs1042127
CDSN ; PSORS1C1
2 0.925 0.120 6 31116393 missense variant A/C snv 0.21 0.17 0.700 1.000 1 2009 2009
dbSNP: rs11121380
rs11121380
SPSB1
1 1.000 0.120 1 9348900 intron variant A/C snv 0.11 0.800 1.000 1 2013 2013
dbSNP: rs11137037
rs11137037
ANGPT2 ; MCPH1
4 0.851 0.200 8 6538661 intron variant A/C snv 0.40 0.010 1.000 1 2019 2019
dbSNP: rs11765576
rs11765576 		1 1.000 0.120 7 131676169 intergenic variant A/C snv 0.47 0.010 1.000 1 2009 2009
dbSNP: rs12110787
rs12110787
MAP3K4
1 1.000 0.120 6 161053934 intron variant A/C snv 0.16 0.700 1.000 1 2013 2013
dbSNP: rs1480383
rs1480383 		1 1.000 0.120 6 32773079 intergenic variant A/C snv 0.31 0.700 1.000 1 2011 2011