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: rs121913535
rs121913535
KRAS
14 0.742 0.320 12 25245348 missense variant C/A;G;T snv 0.700 0
dbSNP: rs142441643
rs142441643
SDHA
15 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.700 0
dbSNP: rs1555534667
rs1555534667
NF1
1 1.000 0.040 17 31336653 stop gained A/C;T snv 0.700 0
dbSNP: rs1567813248
rs1567813248
FLCN
1 1.000 0.040 17 17219210 splice acceptor variant C/A 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 0.100 0.842 19 2011 2020
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.842 19 2011 2020
dbSNP: rs121913500
rs121913500
IDH1
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2014 2015
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1214031315
rs1214031315
PTPN11 ; RPL6
3 0.882 0.040 12 112419123 splice region variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs121913237
rs121913237
NRAS
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs727503094
rs727503094
HRAS ; LRRC56
41 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 0.010 1.000 1 2007 2007
dbSNP: rs772301300
rs772301300
CCNH ; RASA1
3 0.882 0.040 5 87331351 stop gained G/A snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs779707422
rs779707422
FGFR1
12 0.763 0.280 8 38417331 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2019 2019