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: rs917997
rs917997 		20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs886037891
rs886037891
EGFR
7 0.790 0.160 7 55155917 missense variant G/T snv 4.0E-06 0.700 0
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: rs863224909
rs863224909
PTEN
14 0.732 0.360 10 87960952 stop gained C/A;G snv 0.700 0
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: 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: 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: 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: 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: 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: 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: 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
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: rs587782455
rs587782455
PTEN
8 0.790 0.160 10 87960892 splice acceptor variant A/G;T snv 5.1E-05 0.700 1.000 1 2017 2017
dbSNP: rs587782350
rs587782350
PTEN
9 0.776 0.160 10 87957955 missense variant C/T snv 0.700 1.000 8 1999 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: rs587776673
rs587776673
PTEN
7 0.790 0.160 10 87952130 frameshift variant C/- delins 0.700 0
dbSNP: rs587776672
rs587776672
PTEN
7 0.790 0.160 10 87960893 splice acceptor variant G/- delins 0.700 0
dbSNP: rs587776671
rs587776671
PTEN ; KLLN
7 0.790 0.160 10 87864506 frameshift variant AA/-;AAA delins 0.700 0
dbSNP: rs587776670
rs587776670
PTEN
7 0.790 0.160 10 87952211 frameshift variant C/- del 7.0E-06 0.700 0
dbSNP: rs587776669
rs587776669
PTEN
7 0.790 0.160 10 87957914 frameshift variant A/- del 0.700 0
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: rs587776666
rs587776666
PTEN
7 0.790 0.160 10 87933106 frameshift variant ACAAT/- del 0.700 0
dbSNP: rs4871857
rs4871857
TNFRSF10A
4 0.851 0.200 8 23201811 missense variant C/G snv 0.010 1.000 1 2012 2012
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