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: rs137854561
rs137854561
NF1
2 0.925 0.120 17 31336750 missense variant T/C snv 0.010 1.000 1 2001 2001
dbSNP: rs1801052
rs1801052
NF1
1 1.000 0.120 17 31181757 synonymous variant G/A;T snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs768366978
rs768366978
NF1
5 0.851 0.240 17 31352411 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs777369021
rs777369021
NF1
1 1.000 0.120 17 31200538 synonymous variant T/C snv 8.4E-05 1.0E-04 0.010 1.000 1 2007 2007
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: 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: 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: rs199474780
rs199474780
NF1
1 1.000 0.120 17 31233083 missense variant T/C;G snv 0.700 1.000 24 1990 2014
dbSNP: rs199474793
rs199474793
NF1
1 1.000 0.120 17 31357290 missense variant A/G snv 8.0E-06 7.0E-06 0.700 1.000 24 1990 2014
dbSNP: rs142712751
rs142712751
NF1
1 1.000 0.120 17 31223532 missense variant T/C;G snv 1.4E-03 0.700 1.000 20 1990 2014
dbSNP: rs199474725
rs199474725
NF1
1 1.000 0.120 17 31156014 missense variant A/G snv 0.700 1.000 20 1990 2014
dbSNP: rs199474731
rs199474731
NF1
1 1.000 0.120 17 31163247 missense variant T/G snv 0.700 1.000 20 1990 2014
dbSNP: rs199474733
rs199474733
NF1
1 1.000 0.120 17 31259036 missense variant T/C snv 0.700 1.000 20 1990 2014
dbSNP: rs199474734
rs199474734
NF1
1 1.000 0.120 17 31163331 missense variant T/A;C snv 0.700 1.000 20 1990 2014
dbSNP: rs199474735
rs199474735
NF1
1 1.000 0.120 17 31200503 missense variant T/C;G snv 0.700 1.000 20 1990 2014
dbSNP: rs199474736
rs199474736
NF1
1 1.000 0.120 17 31200543 missense variant A/T snv 0.700 1.000 20 1990 2014
dbSNP: rs199474741
rs199474741
NF1
2 1.000 0.120 17 31233092 missense variant T/G snv 0.700 1.000 20 1990 2014
dbSNP: rs199474744
rs199474744
NF1
1 1.000 0.120 17 31163367 missense variant T/A snv 0.700 1.000 20 1990 2014
dbSNP: rs199474749
rs199474749
NF1
1 1.000 0.120 17 31229887 missense variant T/G snv 0.700 1.000 20 1990 2014
dbSNP: rs199474757
rs199474757
NF1
1 1.000 0.120 17 31214530 missense variant A/G snv 8.0E-06 0.700 1.000 20 1990 2014