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: 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: rs1254394380
rs1254394380
COL11A1
4 0.882 0.160 1 102888618 stop gained G/A snv 0.010 1.000 1 2018 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: 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: 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: 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: 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: 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: 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: rs917997
rs917997 		20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.010 1.000 1 2019 2019
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: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs886037891
rs886037891
EGFR
7 0.790 0.160 7 55155917 missense variant G/T snv 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: rs121909231
rs121909231
PTEN
32 0.667 0.600 10 87961095 stop gained C/A;T snv 0.720 1.000 8 1997 2015
dbSNP: rs587782350
rs587782350
PTEN
9 0.776 0.160 10 87957955 missense variant C/T snv 0.700 1.000 8 1999 2017
dbSNP: rs121909232
rs121909232
PTEN
9 0.776 0.160 10 87952258 stop gained C/A;G snv 4.0E-06 0.700 1.000 5 1975 2014
dbSNP: rs121913293
rs121913293
PTEN
18 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 1.000 5 2007 2017
dbSNP: rs121909224
rs121909224
PTEN
41 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 4 1997 2013
dbSNP: rs1064793345
rs1064793345
PTEN
11 0.752 0.240 10 87961039 missense variant T/C snv 0.700 1.000 2 2012 2012
dbSNP: rs1085308041
rs1085308041
PTEN
12 0.763 0.160 10 87965285 splice acceptor variant A/C;G snv 0.700 1.000 1 2017 2017