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: rs143267032
rs143267032
CUX1
1 1.000 0.160 7 102028117 missense variant C/G snv 2.8E-05 2.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs12147254
rs12147254
TRAF3
4 0.851 0.240 14 102799329 intron variant G/A snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs764931115
rs764931115
AKT1
3 0.925 0.200 14 104780148 missense variant T/C snv 4.0E-06 0.010 < 0.001 1 2002 2002
dbSNP: rs9372120
rs9372120
ATG5
5 0.851 0.280 6 106219660 intron variant T/G snv 0.16 0.700 1.000 1 2016 2016
dbSNP: rs17507636
rs17507636
CTB-30L5.1
1 1.000 0.160 7 106650672 intron variant C/T snv 0.23 0.700 1.000 2 2016 2018
dbSNP: rs1555902
rs1555902 		1 1.000 0.160 13 108204435 downstream gene variant C/A snv 0.10 0.010 1.000 1 2019 2019
dbSNP: rs104894419
rs104894419
LIG4
8 0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 0.700 0
dbSNP: rs193451
rs193451 		1 1.000 0.160 7 108670542 intergenic variant A/G snv 0.36 0.010 1.000 1 2011 2011
dbSNP: rs12711846
rs12711846
ACOXL ; ACOXL-AS1 ; MIR4435-2HG
4 0.851 0.160 2 111098716 non coding transcript exon variant A/G snv 0.26 0.700 1.000 1 2017 2017
dbSNP: rs121918464
rs121918464
PTPN11
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs121918465
rs121918465
PTPN11
7 0.827 0.200 12 112450407 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs397507546
rs397507546
PTPN11
9 0.790 0.360 12 112489084 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913255
rs121913255
NRAS
26 0.667 0.400 1 114713907 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121434596
rs121434596
NRAS
26 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121434595
rs121434595
NRAS
19 0.708 0.320 1 114716124 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913237
rs121913237
NRAS
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913250
rs121913250
NRAS
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.080 0.750 8 2003 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.070 1.000 7 2000 2019
dbSNP: rs2228055
rs2228055
IL10RA
4 0.851 0.280 11 117994131 missense variant A/C;G snv 8.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs121913478
rs121913478
FGFR2
17 0.708 0.640 10 121515280 missense variant T/C snv 0.010 < 0.001 1 2006 2006
dbSNP: rs6595443
rs6595443
CEP120
1 1.000 0.160 5 123407631 intron variant A/T snv 0.44 0.700 1.000 1 2018 2018
dbSNP: rs4525246
rs4525246
GRAMD1B
4 0.851 0.160 11 123524538 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs58618031
rs58618031
POT1-AS1
1 1.000 0.160 7 124943842 intron variant T/C snv 0.24 0.700 1.000 1 2018 2018