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: rs867410737
rs867410737
45 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
dbSNP: rs1057518842
rs1057518842
NF1
5 1.000 0.080 17 31227215 splice region variant T/G snv 0.700 0
dbSNP: rs1057518974
rs1057518974
NF1
3 1.000 0.080 17 31334837 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1057519369
rs1057519369
NF1
13 0.790 0.280 17 31340532 frameshift variant -/G delins 0.700 0
dbSNP: rs1057519370
rs1057519370
NF1
7 0.882 0.120 17 31159091 splice donor variant G/- delins 0.700 0
dbSNP: rs1060500345
rs1060500345
NF1
2 1.000 0.120 17 31337583 splice donor variant G/A;T snv 0.700 0
dbSNP: rs1085307845
rs1085307845
21 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
dbSNP: rs1131691771
rs1131691771
18 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 0.700 0
dbSNP: rs1135402867
rs1135402867
NF1
2 1.000 0.120 17 31325978 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs121918457
rs121918457
24 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs137852814
rs137852814
16 0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 0.700 0
dbSNP: rs1554504663
rs1554504663
11 0.851 0.080 8 23007627 missense variant G/A snv 0.700 0
dbSNP: rs1554888939
rs1554888939
58 0.683 0.640 9 137798823 missense variant G/T snv 0.700 0
dbSNP: rs1555429629
rs1555429629
23 0.763 0.200 15 40729632 missense variant G/A snv 0.700 0
dbSNP: rs1555535032
rs1555535032
NF1
9 0.882 0.120 17 31338734 frameshift variant TTAC/- delins 0.700 0
dbSNP: rs1555619420
rs1555619420
NF1
3 1.000 0.040 17 31265331 frameshift variant -/G delins 0.700 0
dbSNP: rs1556425596
rs1556425596
37 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
dbSNP: rs1560419312
rs1560419312
KIT
4 1.000 0.120 4 54729344 missense variant T/G snv 0.700 0
dbSNP: rs1562114190
rs1562114190
21 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
dbSNP: rs1562127631
rs1562127631
24 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
dbSNP: rs1568070621
rs1568070621
4 1.000 0.040 17 67918746 frameshift variant AG/- delins 0.700 0
dbSNP: rs1568359734
rs1568359734
8 0.827 0.240 18 33738903 frameshift variant A/- delins 0.700 0
dbSNP: rs1569355102
rs1569355102
51 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
dbSNP: rs397507483
rs397507483
13 0.790 0.400 7 140753348 missense variant C/A;T snv 0.700 0
dbSNP: rs397507542
rs397507542
9 0.790 0.320 12 112489069 missense variant G/T snv 0.700 0