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: rs1060500126
rs1060500126
PTEN
8 0.790 0.160 10 87933223 missense variant A/C;G snv 0.700 0
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
dbSNP: rs1085308043
rs1085308043
PTEN
12 0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1114167621
rs1114167621
PTEN
8 0.790 0.160 10 87931045 splice acceptor variant G/A;C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1114167622
rs1114167622
PTEN
8 0.790 0.160 10 87952260 splice donor variant G/C snv 0.700 1.000 1 2017 2017
dbSNP: rs1114167640
rs1114167640
PTEN
8 0.790 0.160 10 87961067 stop gained TGACAAAGCAAATA/CGCTT delins 0.700 0
dbSNP: rs1114167650
rs1114167650
PTEN
8 0.790 0.160 10 87925562 splice region variant G/A snv 0.700 1.000 1 2017 2017
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: rs121909218
rs121909218
PTEN
25 0.672 0.360 10 87933145 missense variant G/A snv 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: rs121909221
rs121909221
PTEN
7 0.790 0.160 10 87952135 missense variant T/A snv 0.700 0
dbSNP: rs121909222
rs121909222
PTEN
13 0.742 0.240 10 87933127 missense variant A/G snv 0.700 0
dbSNP: rs121909223
rs121909223
PTEN
8 0.790 0.160 10 87933129 missense variant T/C;G snv 0.700 0
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: rs121909225
rs121909225
PTEN
8 0.790 0.160 10 87894049 missense variant T/C;G snv 0.700 0
dbSNP: rs121909226
rs121909226
PTEN
7 0.790 0.160 10 87925557 missense variant T/C 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: rs121909229
rs121909229
PTEN
23 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 0
dbSNP: rs121909230
rs121909230
PTEN
2 0.925 0.080 10 87933094 missense variant T/C snv 0.700 0
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: rs121909241
rs121909241
PTEN
8 0.790 0.160 10 87933154 missense variant G/A;T snv 0.700 0