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: rs383830
rs383830 		3 0.882 0.040 5 100613278 intergenic variant A/T snv 0.76 0.010 1.000 1 2015 2015
dbSNP: rs633185
rs633185
ARHGAP42
10 0.925 0.080 11 100722807 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs604723
rs604723
ARHGAP42
9 1.000 0.040 11 100739815 intron variant T/C snv 0.78 0.700 1.000 1 2018 2018
dbSNP: rs7947761
rs7947761
ARHGAP42
1 1.000 0.040 11 100753868 intron variant A/G snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs4754698
rs4754698
ARHGAP42
1 1.000 0.040 11 100761177 intron variant C/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs763802417
rs763802417
NOX1
5 0.882 0.040 X 100862805 missense variant G/A snv 5.9E-06 0.010 1.000 1 2016 2016
dbSNP: rs2227631
rs2227631
SERPINE1
13 0.742 0.200 7 101126257 upstream gene variant A/G snv 0.54 0.010 1.000 1 2018 2018
dbSNP: rs1799889
rs1799889
SERPINE1
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs763351020
rs763351020
SERPINE1
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.020 0.500 2 2007 2017
dbSNP: rs1050286
rs1050286
OLR1
3 0.882 0.160 12 10158964 3 prime UTR variant T/C snv 0.40 0.010 1.000 1 2016 2016
dbSNP: rs3736235
rs3736235
OLR1
2 0.925 0.080 12 10160476 non coding transcript exon variant T/C snv 0.43 0.40 0.010 1.000 1 2010 2010
dbSNP: rs3736234
rs3736234
OLR1
4 0.851 0.040 12 10160535 non coding transcript exon variant G/A snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs11053646
rs11053646
OLR1
18 0.724 0.280 12 10160849 missense variant C/G snv 0.11 0.13 0.050 0.800 5 2003 2017
dbSNP: rs3217713
rs3217713
NFKBIZ
1 1.000 0.040 3 101857185 splice region variant -/TTCTAGAAAGCTTTAATAACCAC;TTTTAGAAAGCTTTAATAACCAC;TTTTTAGAAAGCTTTAATAACCAC delins 0.81 0.010 1.000 1 2019 2019
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.060 0.833 6 2007 2016
dbSNP: rs11685424
rs11685424
IL1RL1
2 0.925 0.040 2 102310521 upstream gene variant G/A snv 0.54 0.010 1.000 1 2013 2013
dbSNP: rs950880
rs950880
IL18R1 ; IL1RL1
3 1.000 0.040 2 102316102 intron variant C/A snv 0.30 0.010 1.000 1 2017 2017
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.040 1.000 4 2014 2016
dbSNP: rs11568818
rs11568818
MMP7
15 0.763 0.280 11 102530930 upstream gene variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs4648004
rs4648004
NFKB1
1 1.000 0.040 4 102539950 intron variant A/G snv 0.26 0.010 1.000 1 2011 2011
dbSNP: rs230521
rs230521
NFKB1
4 0.851 0.160 4 102542171 intron variant C/G snv 0.59 0.010 1.000 1 2011 2011
dbSNP: rs3774968
rs3774968
NFKB1 ; LOC105377347
4 0.882 0.120 4 102609955 intron variant A/G snv 0.64 0.010 1.000 1 2016 2016
dbSNP: rs1609798
rs1609798
NFKB1 ; LOC105377347
1 1.000 0.040 4 102616285 intron variant C/T snv 0.26 0.010 1.000 1 2011 2011
dbSNP: rs2239008
rs2239008
MMP1 ; WTAPP1
1 1.000 0.040 11 102790349 3 prime UTR variant G/A snv 0.19 0.010 1.000 1 2014 2014
dbSNP: rs498186
rs498186
MMP1 ; WTAPP1
2 0.925 0.080 11 102798914 intron variant A/C snv 0.40 0.010 1.000 1 2014 2014