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: rs4871857
rs4871857
TNFRSF10A
4 0.851 0.200 8 23201811 missense variant C/G snv 0.010 1.000 1 2012 2012
dbSNP: rs587776667
rs587776667
PTEN
14 0.742 0.280 10 87931090 splice donor variant G/A;C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs587781784
rs587781784
PTEN
8 0.790 0.160 10 87952116 splice acceptor variant A/C;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs727504114
rs727504114
PTEN
8 0.790 0.160 10 87952261 splice donor variant T/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs786201041
rs786201041
PTEN
9 0.776 0.160 10 87961119 splice donor variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs786203847
rs786203847
PTEN
8 0.790 0.160 10 87925512 splice acceptor variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs876661024
rs876661024
PTEN
11 0.776 0.200 10 87957852 splice acceptor variant G/A;C;T snv 0.700 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: rs1060500126
rs1060500126
PTEN
8 0.790 0.160 10 87933223 missense variant A/C;G snv 0.700 0
dbSNP: rs1114167640
rs1114167640
PTEN
8 0.790 0.160 10 87961067 stop gained TGACAAAGCAAATA/CGCTT delins 0.700 0
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: 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: rs121909241
rs121909241
PTEN
8 0.790 0.160 10 87933154 missense variant G/A;T snv 0.700 0
dbSNP: rs1224040268
rs1224040268
PTEN
12 0.742 0.360 10 87931091 splice donor variant T/A;C snv 7.0E-06 0.700 0
dbSNP: rs1554825165
rs1554825165
PTEN
7 0.790 0.160 10 87957872 stop gained C/A snv 0.700 0