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: rs398123318
rs398123318
PTEN
9 0.776 0.240 10 87925558 splice region variant AGTA/- delins 0.700 1.000 1 2017 2017
dbSNP: rs398123317
rs398123317
PTEN
8 0.790 0.160 10 87925550 missense variant T/A;C;G snv 0.700 0
dbSNP: rs397515374
rs397515374
PTEN
7 0.790 0.160 10 87952159 stop gained TA/AT mnv 0.700 0
dbSNP: rs370795352
rs370795352
PTEN
13 0.742 0.360 10 87933163 missense variant T/A;C snv 4.0E-06 0.700 0
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: rs2856836
rs2856836
IL1A
9 0.763 0.280 2 112774506 3 prime UTR variant A/G snv 0.26 0.010 1.000 1 2017 2017
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: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.020 1.000 2 2018 2019
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: 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: rs1800587
rs1800587
IL1A
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.010 1.000 1 2017 2017
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: 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: rs1554900675
rs1554900675
PTEN
7 0.790 0.160 10 87952263 splice region variant A/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554898244
rs1554898244
PTEN
7 0.790 0.160 10 87933253 splice donor variant T/C;G snv 0.700 0
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: rs1554898085
rs1554898085
PTEN
7 0.790 0.160 10 87933061 frameshift variant -/AAACC delins 0.700 0
dbSNP: rs1554898083
rs1554898083
PTEN
7 0.790 0.160 10 87933057 frameshift variant -/T delins 0.700 0
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: rs1554897854
rs1554897854
PTEN
7 0.790 0.160 10 87931042 splice acceptor variant AGTT/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1554825643
rs1554825643
PTEN
7 0.790 0.160 10 87961107 frameshift variant C/- delins 0.700 0
dbSNP: rs1554825530
rs1554825530
PTEN
7 0.790 0.160 10 87960957 frameshift variant -/CT;TTCT ins 0.700 0
dbSNP: rs1554825165
rs1554825165
PTEN
7 0.790 0.160 10 87957872 stop gained C/A snv 0.700 0
dbSNP: rs143383
rs143383
GDF5
17 0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47 0.020 0.500 2 2011 2018
dbSNP: rs1420106
rs1420106
IL18RAP
5 0.851 0.200 2 102418584 upstream gene variant A/G snv 0.78 0.010 1.000 1 2019 2019