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: rs3809060
rs3809060
2 11 32437261 intron variant G/T snv 0.49 0.700 1.000 1 2015 2015
dbSNP: rs6991952
rs6991952
1 8 25849896 intron variant A/G snv 0.49 0.700 1.000 1 2015 2015
dbSNP: rs2009262
rs2009262
1 2 55785079 intergenic variant T/C snv 0.19 0.700 1.000 1 2015 2015
dbSNP: rs370763
rs370763
1 5 65059233 intergenic variant T/A snv 0.66 0.700 1.000 1 2015 2015
dbSNP: rs1232880706
rs1232880706
36 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
dbSNP: rs267607093
rs267607093
14 0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs863224493
rs863224493
NF1
7 0.925 0.120 17 31352281 stop gained G/A snv 0.700 0
dbSNP: rs138385391
rs138385391
2 X 133026484 missense variant C/T snv 4.5E-03 3.2E-03 0.010 1.000 1 2009 2009
dbSNP: rs1553630457
rs1553630457
8 0.882 0.240 3 30674231 missense variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs35397110
rs35397110
2 X 133027131 missense variant G/A;T snv 3.8E-02 0.010 1.000 1 2009 2009
dbSNP: rs143044921
rs143044921
8 0.827 0.280 13 38691375 missense variant G/A;T snv 3.5E-03 0.700 0
dbSNP: rs1554781700
rs1554781700
12 0.851 0.240 9 134701287 missense variant G/T snv 0.700 0
dbSNP: rs61729366
rs61729366
6 0.851 0.240 4 78511299 missense variant G/A snv 5.2E-03 5.8E-03 0.700 0
dbSNP: rs868064163
rs868064163
13 1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs886041239
rs886041239
9 1.000 0.160 10 110593202 missense variant A/G snv 0.700 0
dbSNP: rs200661329
rs200661329
48 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
dbSNP: rs1057518909
rs1057518909
5 0.925 0.120 15 48534099 frameshift variant CATT/- delins 0.700 0
dbSNP: rs1163944538
rs1163944538
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs886039900
rs886039900
8 0.925 0.320 1 27549887 frameshift variant C/- delins 0.700 0
dbSNP: rs1352010373
rs1352010373
73 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
dbSNP: rs875989800
rs875989800
33 0.732 0.480 22 23833670 inframe deletion AGA/- delins 0.700 0