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: rs121913237
rs121913237
NRAS
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.700 1.000 9 2006 2016
dbSNP: rs121913250
rs121913250
NRAS
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.700 1.000 9 2006 2016
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.700 1.000 8 2006 2016
dbSNP: rs6687758
rs6687758 		11 0.763 0.200 1 221991606 regulatory region variant A/G snv 0.20 0.700 1.000 5 2010 2019
dbSNP: rs10911251
rs10911251
LAMC1
9 0.790 0.080 1 183112059 intron variant A/C snv 0.37 0.700 1.000 2 2013 2019
dbSNP: rs72647484
rs72647484 		9 0.790 0.080 1 22261235 regulatory region variant T/C snv 6.2E-02 0.700 1.000 2 2015 2019
dbSNP: rs1057519917
rs1057519917
MTOR
7 0.807 0.160 1 11124517 missense variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057941
rs1057941
GBAP1
18 0.701 0.280 1 155216951 non coding transcript exon variant G/A;T snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs11119608
rs11119608
KCNH1
17 0.708 0.280 1 210816167 intron variant T/G snv 0.21 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: 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: rs12143541
rs12143541
TTC22
9 0.790 0.080 1 54782179 intron variant A/G snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs12144319
rs12144319
TTC22
10 0.776 0.080 1 54780362 3 prime UTR variant T/C snv 0.31 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 2014 2014
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: rs138551214
rs138551214
EPHB2
4 0.925 0.080 1 22909025 missense variant G/A snv 4.0E-06 1.4E-05 0.700 1.000 1 2008 2008
dbSNP: rs17011141
rs17011141
LINC02257
10 0.776 0.080 1 221939292 intron variant A/G snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs186507655
rs186507655 		17 0.708 0.280 1 1351675 upstream gene variant G/A snv 6.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs201395236
rs201395236
EFCAB2
9 0.790 0.080 1 245018119 intron variant T/C snv 1.5E-04 0.700 1.000 1 2019 2019
dbSNP: rs2184857
rs2184857
LOC105373224
9 0.790 0.080 1 239918447 upstream gene variant A/C snv 0.45 0.700 1.000 1 2017 2017
dbSNP: rs2974935
rs2974935
MTX1
17 0.708 0.280 1 155212052 non coding transcript exon variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs3753366
rs3753366
GNG12
9 0.790 0.080 1 67729450 intron variant C/G snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs4360494
rs4360494
SF3A3
12 0.776 0.080 1 37990219 upstream gene variant G/C snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs4546885
rs4546885
LAMC1
9 0.790 0.080 1 183056420 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs587777894
rs587777894
MTOR
9 0.776 0.240 1 11124516 missense variant G/A;T snv 0.700 1.000 1 2016 2016