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 0.710 1.000 2 2013 2016
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: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2006 2006
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: 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: 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: rs121913255
rs121913255
NRAS
26 0.667 0.400 1 114713907 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2009 2009
dbSNP: rs2153977
rs2153977
MAGI3
6 0.807 0.240 1 113537449 intron variant C/T snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs2695237
rs2695237 		3 0.882 0.080 1 226415934 upstream gene variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs486907
rs486907
RNASEL
32 0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 0.010 1.000 1 2017 2017
dbSNP: rs587777894
rs587777894
MTOR
9 0.776 0.240 1 11124516 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs72704658
rs72704658
ARNT
3 0.882 0.080 1 150860534 intron variant T/C snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs267599211
rs267599211
CNOT9
3 0.882 0.080 2 218584683 missense variant C/T snv 0.710 1.000 2 2015 2016
dbSNP: rs1057519955
rs1057519955
CNOT9
1 1.000 0.080 2 218584682 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519956
rs1057519956
CNOT9
5 0.827 0.200 2 218583025 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519957
rs1057519957
CNOT9
5 0.827 0.200 2 218583026 missense variant C/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519961
rs1057519961
SF3B1
4 0.851 0.240 2 197402759 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913499
rs121913499
IDH1
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913500
rs121913500
IDH1
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs13006529
rs13006529
CASP10
7 0.851 0.080 2 201217736 missense variant T/A snv 0.41 0.42 0.010 1.000 1 2008 2008
dbSNP: rs186133190
rs186133190
WDPCP
3 0.882 0.080 2 63550724 intron variant T/C snv 4.9E-04 0.700 1.000 1 2015 2015
dbSNP: rs202042867
rs202042867
POMC
1 1.000 0.080 2 25161630 missense variant G/C snv 8.6E-05 4.7E-04 0.010 1.000 1 2008 2008
dbSNP: rs2227981
rs2227981
PDCD1 ; LOC105373977
12 0.763 0.400 2 241851121 synonymous variant A/C;G snv 1.6E-04; 0.63 0.010 1.000 1 2018 2018