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: rs878854600
rs878854600
SMARCB1 ; DERL3
4 0.851 0.240 22 23834262 3 prime UTR variant C/T snv 0.700 0
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 0.500 2 2013 2015
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 0.500 2 2013 2015
dbSNP: rs121913530
rs121913530
KRAS
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1225976306
rs1225976306
BRAF ; LOC105375536
8 0.807 0.160 7 140924673 missense variant C/T snv 9.3E-06 0.010 1.000 1 2013 2013
dbSNP: rs387906812
rs387906812
SMARCB1 ; DERL3
3 0.882 0.320 22 23834152 missense variant G/A snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs55832599
rs55832599
TP53
18 0.716 0.360 17 7673821 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs55945045
rs55945045
LATS1
1 1.000 0.040 6 149701841 missense variant G/A snv 3.6E-03; 4.0E-06 3.4E-03 0.010 1.000 1 2014 2014
dbSNP: rs74315513
rs74315513
SMARCB1
2 0.925 0.160 22 23787203 stop gained C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs753300935
rs753300935
NF2
1 1.000 0.040 22 29661299 missense variant C/G;T snv 8.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs866419664
rs866419664
TP53
5 0.882 0.040 17 7673821 frameshift variant -/TCCCA delins 0.010 1.000 1 2014 2014