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: rs12406439
rs12406439 		1 1.000 0.080 1 102774795 intron variant C/T snv 0.50 0.700 1.000 1 2019 2019
dbSNP: rs267607247
rs267607247
MPZ
3 0.882 0.120 1 161305953 missense variant C/A snv 0.010 1.000 1 2010 2010
dbSNP: rs1025128
rs1025128 		1 1.000 0.080 2 59948340 intron variant G/A;C snv 0.700 1.000 1 2019 2019
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: rs12104955
rs12104955
LTBP1
1 1.000 0.080 2 33188236 intron variant C/A;T snv 0.700 1.000 1 2019 2019
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: 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: 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: 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: rs3791679
rs3791679
EFEMP1 ; LOC112268416
11 0.925 0.120 2 55869757 intron variant A/G snv 0.20 0.700 1.000 1 2019 2019
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: rs847139
rs847139 		1 1.000 0.080 2 176035543 intergenic variant C/T snv 0.15 0.700 1.000 1 2019 2019
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: rs1305315912
rs1305315912
VEGFA
2 1.000 0.080 6 43770736 synonymous variant C/T snv 0.010 1.000 1 2015 2015
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
dbSNP: rs62422907
rs62422907 		1 1.000 0.080 6 85006237 regulatory region variant G/A snv 8.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs970547
rs970547
COL12A1
1 1.000 0.080 6 75087586 missense variant C/T snv 0.75 0.73 0.010 1.000 1 2016 2016
dbSNP: rs55841377
rs55841377
AEBP1
1 1.000 0.080 7 44105579 intron variant C/A;G snv 0.700 1.000 1 2019 2019
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: 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: 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: 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: rs370579379
rs370579379
RBP4 ; FFAR4
6 0.827 0.160 10 93594018 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2019 2019