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: rs199474760
rs199474760
NF1
1 1.000 0.120 17 31223470 missense variant A/G snv 0.800 1.000 31 1990 2016
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: 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: 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: 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: rs149055633
rs149055633
NF1
1 1.000 0.120 17 31352319 missense variant C/T snv 5.6E-05 6.3E-05 0.700 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: rs199474740
rs199474740
NF1
1 1.000 0.120 17 31232092 missense variant A/G snv 1.2E-05 5.5E-05 0.700 1.000 24 1990 2014
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: rs199474764
rs199474764
NF1
1 1.000 0.120 17 31232852 missense variant A/G snv 4.0E-06 0.700 1.000 24 1990 2014
dbSNP: rs199474765
rs199474765
NF1
1 1.000 0.120 17 31235651 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 24 1990 2014
dbSNP: rs199474766
rs199474766
NF1
1 1.000 0.120 17 31265317 missense variant A/G snv 4.0E-06 1.4E-05 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: rs199474777
rs199474777
NF1
1 1.000 0.120 17 31227260 missense variant G/A;T snv 8.0E-05; 4.0E-06 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