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: rs5742909
rs5742909
40 0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02 0.020 1.000 2 2012 2013
dbSNP: rs11188147
rs11188147
1 1.000 0.040 10 95034063 downstream gene variant C/T snv 0.38 0.010 1.000 1 2016 2016
dbSNP: rs11576658
rs11576658
2 0.925 0.120 1 10977679 intron variant C/T snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs12106193
rs12106193
1 1.000 0.040 20 21560389 intergenic variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2003046
rs2003046
2 0.925 0.120 1 10972770 intron variant C/A;G snv 0.700 1.000 1 2012 2012
dbSNP: rs224278
rs224278
1 1.000 0.040 10 62820815 intron variant C/T snv 0.39 0.800 1.000 1 2012 2012
dbSNP: rs2857461
rs2857461
3 0.882 0.160 22 29272015 intron variant C/T snv 0.98 0.010 1.000 1 2012 2012
dbSNP: rs3087243
rs3087243
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.010 1.000 1 2013 2013
dbSNP: rs311059
rs311059
1 1.000 0.040 Y 2709663 intron variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs312257
rs312257
1 1.000 0.040 Y 2740657 intron variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs4148737
rs4148737
1 1.000 0.040 7 87541836 intron variant T/C snv 0.43 0.010 1.000 1 2016 2016
dbSNP: rs4553808
rs4553808
28 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs4924410
rs4924410
2 1.000 0.040 15 40047293 intron variant A/C snv 0.73 0.800 1.000 1 2012 2012
dbSNP: rs6106336
rs6106336
1 1.000 0.040 20 21114954 non coding transcript exon variant T/G snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs7744366
rs7744366
1 1.000 0.040 6 6854256 intergenic variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs7832583
rs7832583
1 1.000 0.040 8 137565943 intron variant T/C snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs8026641
rs8026641
2 1.000 0.040 15 40046660 intron variant G/A snv 0.73 0.700 1.000 1 2012 2012
dbSNP: rs9430161
rs9430161
1 1.000 0.040 1 10986798 upstream gene variant G/T snv 0.28 0.800 1.000 1 2012 2012
dbSNP: rs944684
rs944684
1 1.000 0.040 10 62916616 intron variant C/T snv 0.80 0.700 1.000 1 2012 2012
dbSNP: rs763098116
rs763098116
3 0.925 0.040 17 7673790 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.020 1.000 2 2012 2013
dbSNP: rs772295894
rs772295894
NF1
7 0.807 0.280 17 31338739 stop gained C/A;G snv 4.0E-06 0.700 0
dbSNP: rs752536342
rs752536342
1 1.000 0.040 3 52408080 splice region variant G/A;T snv 4.4E-06 0.700 0
dbSNP: rs4820804
rs4820804
1 1.000 0.040 22 29273704 intron variant T/C snv 0.40 0.35 0.010 1.000 1 2012 2012
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2019 2019