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: rs748523570
rs748523570
IL18
1 1.000 0.040 11 112150119 missense variant T/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs137854567
rs137854567
APC
3 0.882 0.120 5 112819272 missense variant C/A;G;T snv 4.0E-06; 6.7E-04 0.010 1.000 1 2018 2018
dbSNP: rs777980327
rs777980327
APC
21 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2234663
rs2234663
IL1RN
14 0.716 0.480 2 113130529 intron variant ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC delins 0.010 1.000 1 2019 2019
dbSNP: rs1382979668
rs1382979668
USP28
1 1.000 0.040 11 113809254 missense variant T/A snv 4.0E-06 0.020 1.000 2 2016 2018
dbSNP: rs1057519695
rs1057519695
NRAS
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.800 1.000 30 1989 2019
dbSNP: rs121913255
rs121913255
NRAS
26 0.667 0.400 1 114713907 missense variant T/A;G snv 0.700 1.000 13 1989 2014
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.800 1.000 32 1989 2019
dbSNP: rs1057519834
rs1057519834
NRAS
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.800 1.000 16 2005 2019
dbSNP: rs121913254
rs121913254
NRAS
31 0.658 0.440 1 114713909 stop gained G/A;C;T snv 0.780 1.000 21 1989 2016
dbSNP: rs121913248
rs121913248
NRAS
1 1.000 0.040 1 114716109 missense variant C/G;T snv 4.0E-06 0.710 1.000 3 2001 2014
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 10 1989 2014
dbSNP: rs121434595
rs121434595
NRAS
19 0.708 0.320 1 114716124 missense variant C/A;G;T snv 0.700 1.000 9 1989 2014
dbSNP: rs121913237
rs121913237
NRAS
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.740 1.000 11 1989 2016
dbSNP: rs121913250
rs121913250
NRAS
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.720 1.000 10 1989 2016
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2007 2007
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 2007 2007
dbSNP: rs778384980
rs778384980
PXN ; PXN-AS1
1 1.000 0.040 12 120212445 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs137853080
rs137853080
STK11
2 1.000 0.040 19 1207058 missense variant T/G snv 0.800 0
dbSNP: rs761446954
rs761446954
FGFR2
1 1.000 0.040 10 121496722 missense variant C/T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs536181987
rs536181987
FGFR2
1 1.000 0.040 10 121503881 missense variant G/A snv 2.8E-05 2.8E-05 0.010 1.000 1 2014 2014
dbSNP: rs137853081
rs137853081
STK11
2 1.000 0.040 19 1219352 missense variant G/C;T snv 0.800 0
dbSNP: rs121913323
rs121913323
STK11
2 1.000 0.040 19 1220416 stop gained C/T snv 0.700 0
dbSNP: rs121913315
rs121913315
STK11
5 0.882 0.160 19 1220488 missense variant G/A;T snv 0.800 1.000 1 1999 1999
dbSNP: rs762807774
rs762807774
SDF4
2 1.000 0.040 1 1228495 frameshift variant CGCGGCTCCGC/-;CGCGGCTCCGCCGCGGCTCCGC delins 7.0E-06 0.010 1.000 1 2018 2018