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: rs1025128
rs1025128 		1 1.000 0.080 2 59948340 intron variant G/A;C snv 0.700 1.000 1 2019 2019
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: rs12104955
rs12104955
LTBP1
1 1.000 0.080 2 33188236 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs121918082
rs121918082
TTR
6 0.827 0.280 18 31595244 missense variant G/C snv 0.010 1.000 1 2016 2016
dbSNP: rs121918088
rs121918088
TTR
4 0.851 0.120 18 31598631 missense variant T/C snv 0.700 1.000 1 1994 1994
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: 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: rs1305315912
rs1305315912
VEGFA
2 1.000 0.080 6 43770736 synonymous variant C/T snv 0.010 1.000 1 2015 2015
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: 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: rs1516797
rs1516797
ACAN
1 1.000 0.080 15 88867083 intron variant T/G snv 0.44 0.010 1.000 1 2014 2014
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: rs1800012
rs1800012
COL1A1
13 0.763 0.320 17 50200388 intron variant C/A snv 0.14 0.010 1.000 1 2016 2016
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: rs1866745
rs1866745
SMAD6
1 1.000 0.080 15 66742474 intron variant G/A snv 0.41 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: 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: 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: 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: 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: 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: 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: rs55841377
rs55841377
AEBP1
1 1.000 0.080 7 44105579 intron variant C/A;G snv 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