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: rs121909220
rs121909220
PTEN
2 0.925 0.080 10 87933228 stop gained G/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: 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: 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: 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: 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: 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: 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: rs138336847
rs138336847
PTEN
8 0.790 0.160 10 87952264 splice region variant G/A;C snv 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1554897854
rs1554897854
PTEN
7 0.790 0.160 10 87931042 splice acceptor variant AGTT/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1554897889
rs1554897889
PTEN
7 0.790 0.160 10 87931094 splice region variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554898242
rs1554898242
PTEN
7 0.790 0.160 10 87933252 splice donor variant G/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554900675
rs1554900675
PTEN
7 0.790 0.160 10 87952263 splice region variant A/T snv 0.700 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: 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
dbSNP: rs226794
rs226794
ADAMTS5
3 0.882 0.160 21 26930036 missense variant A/G snv 0.83 0.89 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: 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: 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