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: rs367543077
rs367543077
3 0.882 0.120 1 235450286 stop gained G/A snv 0.020 1.000 2 2015 2017
dbSNP: rs1249080185
rs1249080185
3 0.882 0.080 1 22784698 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs180758272
rs180758272
3 0.882 0.080 15 89649809 missense variant C/T snv 1.1E-04 5.2E-04 0.010 1.000 1 2015 2015
dbSNP: rs398122368
rs398122368
3 0.925 0.040 22 23791772 missense variant G/A;C snv 0.010 < 0.001 1 2019 2019
dbSNP: rs778740017
rs778740017
3 0.925 0.120 19 35651301 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs730882200
rs730882200
3 0.882 0.040 20 48953604 frameshift variant -/C delins 0.700 0
dbSNP: rs730882225
rs730882225
3 0.925 0.040 1 235980495 splice donor variant C/T snv 4.0E-06 0.700 0
dbSNP: rs730882247
rs730882247
3 0.882 0.040 17 50277743 splice region variant A/G snv 0.700 0
dbSNP: rs869312714
rs869312714
3 0.925 0.120 16 3729810 missense variant C/A snv 0.700 0
dbSNP: rs137852520
rs137852520
4 0.851 0.200 X 153868866 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs387906597
rs387906597
4 0.851 0.280 14 53950667 stop gained G/A;C snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1563406024
rs1563406024
4 0.851 0.240 8 28555799 frameshift variant -/A delins 0.700 0
dbSNP: rs768366978
rs768366978
NF1
5 0.851 0.240 17 31352411 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1060499542
rs1060499542
5 0.827 0.120 5 150125556 missense variant A/G snv 0.700 0
dbSNP: rs1569234334
rs1569234334
5 0.851 0.200 X 70329420 missense variant G/T snv 0.700 0
dbSNP: rs730882250
rs730882250
5 0.882 0.080 17 2039760 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs869025667
rs869025667
VHL
6 0.827 0.200 3 10149916 missense variant T/C snv 0.010 1.000 1 2000 2000
dbSNP: rs730882245
rs730882245
6 0.827 0.160 4 122207168 stop gained T/A snv 0.700 0
dbSNP: rs886039811
rs886039811
6 0.807 0.320 17 19357875 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs866445127
rs866445127
NF1
7 0.851 0.240 17 31352348 stop gained C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs1554555063
rs1554555063
7 0.882 0.160 8 93791324 splice region variant G/A snv 0.700 0
dbSNP: rs776587763
rs776587763
7 0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs267607116
rs267607116
8 0.851 0.160 8 93808861 missense variant G/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs431905509
rs431905509
8 0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05 0.700 0
dbSNP: rs1085308046
rs1085308046
9 0.790 0.240 10 87933160 missense variant T/C;G snv 0.700 0