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: rs72755233
rs72755233
ADAMTS17
5 1.000 0.080 15 100152748 missense variant G/A;T snv 7.1E-02; 3.2E-05 0.700 1.000 1 2019 2019
dbSNP: rs12406439
rs12406439 		1 1.000 0.080 1 102774795 intron variant C/T snv 0.50 0.700 1.000 1 2019 2019
dbSNP: rs486055
rs486055
MMP10 ; WTAPP1
3 0.925 0.120 11 102779693 missense variant C/G;T snv 1.2E-05; 0.10 0.010 1.000 1 2016 2016
dbSNP: rs679620
rs679620
MMP3
17 0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57 0.010 1.000 1 2016 2016
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2015 2015
dbSNP: rs74421874
rs74421874
PSMD9
14 0.776 0.360 12 121902546 non coding transcript exon variant G/A snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs3825172
rs3825172
PSMD9
14 0.776 0.360 12 121902569 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1043307
rs1043307
PSMD9
14 0.776 0.360 12 121915890 missense variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs4678145
rs4678145
UMPS ; MIR544B
2 0.925 0.120 3 124731234 intron variant G/A;C snv 0.10 0.700 1.000 1 2019 2019
dbSNP: rs6843953
rs6843953
LOC105374494
1 1.000 0.080 4 13220123 intergenic variant C/T snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs13946
rs13946
COL5A1 ; LOC101448202
1 1.000 0.080 9 134842386 3 prime UTR variant C/T snv 0.76 0.010 1.000 1 2015 2015
dbSNP: rs55748801
rs55748801
COL5A1 ; LOC101448202
1 1.000 0.080 9 134842493 3 prime UTR variant G/A snv 5.5E-03 0.010 1.000 1 2015 2015
dbSNP: rs12722
rs12722
COL5A1 ; LOC101448202
6 0.882 0.120 9 134842570 3 prime UTR variant C/T snv 0.44 0.010 1.000 1 2015 2015
dbSNP: rs71746744
rs71746744
COL5A1 ; LOC101448202
1 1.000 0.080 9 134843171 3 prime UTR variant -/GGGA delins 0.010 1.000 1 2015 2015
dbSNP: rs6977081
rs6977081
AOC1 ; LOC105375567
1 1.000 0.080 7 150845427 intron variant G/T snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs1126499
rs1126499
BGN
1 1.000 0.080 X 153506051 missense variant C/A;T snv 0.43 0.37 0.010 1.000 1 2014 2014
dbSNP: rs267607247
rs267607247
MPZ
3 0.882 0.120 1 161305953 missense variant C/A snv 0.010 1.000 1 2010 2010
dbSNP: rs1335856860
rs1335856860
FAP
2 0.925 0.120 2 162183437 missense variant T/C snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs847139
rs847139 		1 1.000 0.080 2 176035543 intergenic variant C/T snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 < 0.001 1 2014 2014
dbSNP: rs3834129
rs3834129
CASP8
38 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 0.010 1.000 1 2020 2020
dbSNP: rs1045485
rs1045485
CASP8
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.010 1.000 1 2020 2020
dbSNP: rs13113
rs13113
CASP8
2 0.925 0.200 2 201287439 3 prime UTR variant T/A snv 0.33 0.010 1.000 1 2020 2020
dbSNP: rs1863190
rs1863190 		2 1.000 0.080 2 217263429 non coding transcript exon variant A/T snv 0.53 0.700 1.000 1 2019 2019
dbSNP: rs3828889
rs3828889
HCP5 ; HCG26
1 1.000 0.080 6 31472874 intron variant T/C snv 0.79 0.700 1.000 1 2019 2019