Gene: NF1 ×
Source: ALL
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: rs137854550
rs137854550
NF1
10 0.790 0.360 17 31258500 missense variant A/C;G snv 0.800 1.000 34 1990 2016
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: rs199474745
rs199474745
NF1
1 1.000 0.120 17 31227527 missense variant G/C snv 0.800 1.000 28 1990 2016
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: 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
dbSNP: rs199474751
rs199474751
NF1
1 1.000 0.120 17 31335026 missense variant G/A;C snv 0.800 1.000 24 1990 2014
dbSNP: rs199474763
rs199474763
NF1
1 1.000 0.120 17 31227539 missense variant A/C;T snv 0.700 1.000 24 1990 2014
dbSNP: rs199474773
rs199474773
NF1
1 1.000 0.120 17 31200546 missense variant A/G snv 0.700 1.000 24 1990 2014
dbSNP: rs199474778
rs199474778
NF1
1 1.000 0.120 17 31227549 stop gained G/A;C snv 0.800 1.000 24 1990 2014
dbSNP: rs199474780
rs199474780
NF1
1 1.000 0.120 17 31233083 missense variant T/C;G snv 0.700 1.000 24 1990 2014
dbSNP: rs199474790
rs199474790
NF1
1 1.000 0.120 17 31258488 missense variant A/C;G snv 0.800 1.000 24 1990 2014
dbSNP: rs199474792
rs199474792
NF1
1 1.000 0.120 17 31334883 missense variant T/C snv 0.800 1.000 24 1990 2014
dbSNP: rs199474730
rs199474730
NF1
1 1.000 0.120 17 31227547 missense variant T/C snv 7.0E-06 0.800 1.000 23 1990 2014
dbSNP: rs199474748
rs199474748
NF1
1 1.000 0.120 17 31229158 missense variant G/A snv 0.800 1.000 23 1990 2015