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: rs199474750
rs199474750
NF1
3 1.000 0.120 17 31258502 missense variant G/A;C;T snv 0.810 1.000 22 1990 2018
dbSNP: rs137854556
rs137854556
NF1
5 0.827 0.280 17 31235729 missense variant G/A;C snv 4.0E-06 0.800 1.000 37 1990 2016
dbSNP: rs137854550
rs137854550
NF1
10 0.790 0.360 17 31258500 missense variant A/C;G snv 0.800 1.000 34 1990 2016
dbSNP: rs199474742
rs199474742
NF1
2 1.000 0.120 17 31235728 stop gained C/G;T snv 4.0E-06 0.800 1.000 34 1990 2015
dbSNP: rs199474747
rs199474747
NF1
3 0.925 0.120 17 31229155 missense variant T/C;G snv 0.800 1.000 32 1990 2018
dbSNP: rs199474760
rs199474760
NF1
1 1.000 0.120 17 31223470 missense variant A/G snv 0.800 1.000 31 1990 2016
dbSNP: rs199474738
rs199474738
NF1
2 1.000 0.120 17 31225134 missense variant G/A;C snv 4.0E-06 0.800 1.000 30 1990 2014
dbSNP: rs199474732
rs199474732
NF1
1 1.000 0.120 17 31233115 missense variant C/G;T snv 4.0E-06 0.800 1.000 29 1990 2016
dbSNP: rs137854566
rs137854566
NF1
1 1.000 0.120 17 31229146 missense variant T/C;G snv 4.0E-06 0.800 1.000 28 1990 2018
dbSNP: rs199474745
rs199474745
NF1
1 1.000 0.120 17 31227527 missense variant G/C snv 0.800 1.000 28 1990 2016
dbSNP: rs199474746
rs199474746
NF1
2 1.000 0.120 17 31227536 missense variant C/A;G snv 4.0E-06 0.800 1.000 28 1977 2015
dbSNP: rs137854557
rs137854557
NF1
2 1.000 0.120 17 31214524 missense variant A/G snv 1.2E-05 7.0E-06 0.800 1.000 27 1990 2014
dbSNP: rs199474756
rs199474756
NF1
1 1.000 0.120 17 31181482 missense variant T/C snv 0.800 1.000 27 1990 2016
dbSNP: rs199474758
rs199474758
NF1
1 1.000 0.120 17 31221854 missense variant T/C snv 0.800 1.000 26 1990 2014
dbSNP: rs199474762
rs199474762
NF1
2 1.000 0.120 17 31227254 missense variant T/C;G snv 0.800 1.000 26 1990 2014
dbSNP: rs199474785
rs199474785
NF1
2 1.000 0.120 17 31229145 missense variant C/T snv 0.800 1.000 26 1990 2016
dbSNP: rs137854553
rs137854553
NF1
1 1.000 0.120 17 31230373 missense variant T/C;G snv 0.800 1.000 25 1990 2014
dbSNP: rs137854554
rs137854554
NF1
1 1.000 0.120 17 31258406 missense variant A/T snv 0.800 1.000 25 1990 2016
dbSNP: rs199474786
rs199474786
NF1
2 1.000 0.120 17 31229308 missense variant T/C snv 0.800 1.000 25 1990 2014
dbSNP: rs137854551
rs137854551
NF1
1 1.000 0.120 17 31337430 missense variant C/A snv 0.800 1.000 24 1990 2014
dbSNP: rs137854558
rs137854558
NF1
1 1.000 0.120 17 31214581 missense variant T/C snv 0.800 1.000 24 1990 2014
dbSNP: rs137854563
rs137854563
NF1
3 0.925 0.120 17 31201044 missense variant T/C;G snv 0.800 1.000 24 1990 2014
dbSNP: rs199474729
rs199474729
NF1
1 1.000 0.120 17 31159050 missense variant C/T snv 4.0E-06 0.800 1.000 24 1990 2014
dbSNP: rs199474737
rs199474737
NF1
1 1.000 0.120 17 31219072 missense variant T/C;G snv 0.800 1.000 24 1990 2014
dbSNP: rs199474743
rs199474743
NF1
2 1.000 0.120 17 31260403 missense variant A/G snv 0.800 1.000 24 1990 2017