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: rs1420106
rs1420106
IL18RAP
5 0.851 0.200 2 102418584 upstream gene variant A/G snv 0.78 0.010 1.000 1 2019 2019
dbSNP: rs917997
rs917997 		20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs591058
rs591058
MMP3
3 0.882 0.160 11 102840607 intron variant T/C snv 0.58 0.57 0.010 1.000 1 2018 2018
dbSNP: rs1254394380
rs1254394380
COL11A1
4 0.882 0.160 1 102888618 stop gained G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1337185
rs1337185
COL11A1
5 0.851 0.160 1 103079209 intron variant C/G;T snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs2856836
rs2856836
IL1A
9 0.763 0.280 2 112774506 3 prime UTR variant A/G snv 0.26 0.010 1.000 1 2017 2017
dbSNP: rs1304037
rs1304037
IL1A
3 0.882 0.200 2 112774659 3 prime UTR variant T/C snv 0.32 0.010 1.000 1 2017 2017
dbSNP: rs17561
rs17561
IL1A
23 0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 0.010 1.000 1 2017 2017
dbSNP: rs1800587
rs1800587
IL1A
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.010 1.000 1 2017 2017
dbSNP: rs34884997
rs34884997
ADAMTS4
2 0.925 0.160 1 161191082 3 prime UTR variant T/C snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs41270041
rs41270041
ADAMTS4
2 0.925 0.160 1 161191494 missense variant G/C snv 9.1E-02 9.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs20575
rs20575
TNFRSF10A
29 0.645 0.440 8 23201811 missense variant C/G snv 0.54 0.44 0.010 1.000 1 2012 2012
dbSNP: rs4871857
rs4871857
TNFRSF10A
4 0.851 0.200 8 23201811 missense variant C/G snv 0.010 1.000 1 2012 2012
dbSNP: rs226794
rs226794
ADAMTS5
3 0.882 0.160 21 26930036 missense variant A/G snv 0.83 0.89 0.010 1.000 1 2017 2017
dbSNP: rs162509
rs162509
ADAMTS5 ; MIR4759
3 0.925 0.160 21 26953456 intron variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs143383
rs143383
GDF5
17 0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47 0.020 0.500 2 2011 2018
dbSNP: rs12722877
rs12722877
COL9A2
2 0.925 0.160 1 40307451 missense variant G/A;C snv 0.010 < 0.001 1 2018 2018
dbSNP: rs7533552
rs7533552
COL9A2
3 0.882 0.160 1 40307477 missense variant T/A;C;G snv 0.020 0.500 2 2018 2018
dbSNP: rs12077871
rs12077871
COL9A2
2 0.925 0.160 1 40307478 stop gained G/A;T snv 3.1E-02; 4.0E-06 0.010 < 0.001 1 2018 2018
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 1.000 1 2019 2019
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.010 1.000 1 2019 2019
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.020 1.000 2 2018 2019
dbSNP: rs886037891
rs886037891
EGFR
7 0.790 0.160 7 55155917 missense variant G/T snv 4.0E-06 0.700 0
dbSNP: rs61734651
rs61734651
COL9A3
6 0.882 0.280 20 62819980 missense variant C/T snv 4.7E-02 4.5E-02 0.010 < 0.001 1 2018 2018