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: rs756055
rs756055 		1 1.000 0.080 14 100224841 intron variant A/G snv 0.34 0.700 1.000 1 2019 2019
dbSNP: rs7153665
rs7153665
YY1
1 1.000 0.080 14 100264583 intron variant A/G snv 0.63 0.700 1.000 1 2019 2019
dbSNP: rs4754687
rs4754687 		1 1.000 0.080 11 100559322 intergenic variant A/C snv 0.75 0.700 1.000 1 2019 2019
dbSNP: rs769056296
rs769056296
APC
1 1.000 0.080 5 112819039 missense variant C/G snv 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs762936223
rs762936223
APC
1 1.000 0.080 5 112819342 missense variant C/G snv 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121913254
rs121913254
NRAS
31 0.658 0.440 1 114713909 stop gained G/A;C;T snv 0.030 1.000 3 2013 2017
dbSNP: rs121434596
rs121434596
NRAS
26 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1372330
rs1372330
ASTN2
1 1.000 0.080 9 116757309 intron variant G/A snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs3853839
rs3853839
TLR7
10 0.752 0.480 X 12889539 3 prime UTR variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs11918092
rs11918092
EPHB1
2 0.925 0.120 3 134794514 intron variant C/A snv 0.74 0.700 1.000 1 2019 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 28 2009 2019
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 28 2009 2019
dbSNP: rs1426107
rs1426107 		1 1.000 0.080 4 14294676 regulatory region variant C/G;T snv 9.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs9285673
rs9285673 		1 1.000 0.080 5 148793365 regulatory region variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs3757441
rs3757441
EZH2
12 0.752 0.200 7 148827660 intron variant C/T snv 0.80 0.010 1.000 1 2015 2015
dbSNP: rs6110524
rs6110524
MACROD2
1 1.000 0.080 20 15130492 intron variant A/G snv 0.88 0.700 1.000 1 2019 2019
dbSNP: rs2163746
rs2163746
SGCD
1 1.000 0.080 5 155918211 intron variant A/G snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs17053011
rs17053011
SGCD
1 1.000 0.080 5 155934106 intron variant G/T snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs368295543
rs368295543
CD38
1 1.000 0.080 4 15778625 missense variant A/G snv 1.2E-05 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs762513613
rs762513613
FCGR2C
11 0.752 0.280 1 161591315 missense variant A/G snv 4.2E-06 7.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs2327990
rs2327990 		1 1.000 0.080 20 16208618 intron variant T/C snv 0.80 0.700 1.000 1 2019 2019
dbSNP: rs5749032
rs5749032 		1 1.000 0.080 22 17313079 intergenic variant A/G snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs7582977
rs7582977 		1 1.000 0.080 2 174340785 upstream gene variant T/C snv 8.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013