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: 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: 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: 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: 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: rs121909231
rs121909231
PTEN
32 0.667 0.600 10 87961095 stop gained C/A;T snv 0.720 1.000 8 1997 2015
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: 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: 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: rs1114167640
rs1114167640
PTEN
8 0.790 0.160 10 87961067 stop gained TGACAAAGCAAATA/CGCTT delins 0.700 0
dbSNP: rs121909219
rs121909219
PTEN
25 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
dbSNP: rs121909220
rs121909220
PTEN
2 0.925 0.080 10 87933228 stop gained G/T snv 0.700 0
dbSNP: rs121909227
rs121909227
PTEN
8 0.776 0.240 10 87957858 stop gained C/T snv 0.700 0
dbSNP: rs121909228
rs121909228
PTEN
7 0.790 0.160 10 87957984 stop gained G/T snv 0.700 0
dbSNP: rs1554825165
rs1554825165
PTEN
7 0.790 0.160 10 87957872 stop gained C/A snv 0.700 0
dbSNP: rs397515374
rs397515374
PTEN
7 0.790 0.160 10 87952159 stop gained TA/AT mnv 0.700 0
dbSNP: rs863224909
rs863224909
PTEN
14 0.732 0.360 10 87960952 stop gained C/A;G snv 0.700 0
dbSNP: rs587782350
rs587782350
PTEN
9 0.776 0.160 10 87957955 missense variant C/T snv 0.700 1.000 8 1999 2017
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: rs1064793345
rs1064793345
PTEN
11 0.752 0.240 10 87961039 missense variant T/C snv 0.700 1.000 2 2012 2012
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: rs12722877
rs12722877
COL9A2
2 0.925 0.160 1 40307451 missense variant G/A;C snv 0.010 < 0.001 1 2018 2018
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: 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: rs2073711
rs2073711
CILP
7 0.807 0.160 15 65201874 missense variant A/G snv 0.56 0.61 0.010 1.000 1 2018 2018