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: rs1131691067
rs1131691067
NF1
2 1.000 0.120 17 31203089 intron variant A/G snv 0.700 1.000 3 2011 2016
dbSNP: rs1567848704
rs1567848704
NF1
1 1.000 0.120 17 31229009 intron variant A/G snv 0.700 1.000 3 2000 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: rs199474778
rs199474778
NF1
1 1.000 0.120 17 31227549 stop gained G/A;C snv 0.800 1.000 24 1990 2014
dbSNP: rs772295894
rs772295894
NF1
7 0.807 0.280 17 31338739 stop gained C/A;G snv 4.0E-06 0.710 1.000 12 1995 2016
dbSNP: rs786201367
rs786201367
NF1
6 0.827 0.280 17 31357308 stop gained C/T snv 0.700 1.000 11 1995 2017
dbSNP: rs876657714
rs876657714
NF1
4 0.882 0.200 17 31327535 stop gained C/T snv 0.700 1.000 11 1994 2013
dbSNP: rs137854552
rs137854552
NF1
7 0.807 0.280 17 31334927 stop gained C/T snv 0.730 1.000 9 1990 2008
dbSNP: rs1555614455
rs1555614455
NF1
1 1.000 0.120 17 31229937 stop gained C/T snv 0.700 1.000 9 1993 2016
dbSNP: rs878853865
rs878853865
NF1
2 1.000 0.120 17 31206360 stop gained C/T snv 0.700 1.000 9 2000 2014
dbSNP: rs886041347
rs886041347
NF1
13 0.790 0.320 17 31229061 stop gained C/T snv 0.710 1.000 9 1997 2015
dbSNP: rs397514641
rs397514641
NF1
11 0.827 0.320 17 31169985 stop gained C/T snv 4.0E-06 1.4E-05 0.700 1.000 7 2000 2017
dbSNP: rs760703505
rs760703505
NF1
5 0.882 0.200 17 31261733 stop gained C/T snv 8.0E-06 7.0E-06 0.710 1.000 7 1997 2019
dbSNP: rs866445127
rs866445127
NF1
7 0.851 0.240 17 31352348 stop gained C/T snv 0.710 1.000 7 1994 2014
dbSNP: rs137854562
rs137854562
NF1
4 0.925 0.120 17 31235623 stop gained C/T snv 0.720 1.000 6 2000 2015
dbSNP: rs1555610854
rs1555610854
NF1
1 1.000 0.120 17 31200442 stop gained AC/TT mnv 0.700 1.000 6 1998 2013
dbSNP: rs376576925
rs376576925
NF1
1 1.000 0.120 17 31235963 stop gained C/A;T snv 1.6E-05; 4.0E-06 0.700 1.000 6 1998 2016
dbSNP: rs778405030
rs778405030
NF1
6 0.827 0.280 17 31206297 stop gained C/T snv 8.0E-06; 4.0E-06 0.700 1.000 6 1995 2013
dbSNP: rs786203950
rs786203950
NF1
2 1.000 0.120 17 31200443 stop gained C/T snv 4.0E-06 0.700 1.000 6 1998 2013
dbSNP: rs876658541
rs876658541
NF1
2 1.000 0.120 17 31338092 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 6 2000 2016
dbSNP: rs137854560
rs137854560
NF1
2 1.000 0.120 17 31249093 stop gained C/T snv 4.0E-06 0.700 1.000 5 1997 2014
dbSNP: rs764079291
rs764079291
NF1
1 1.000 0.120 17 31201471 stop gained C/T snv 4.0E-06 0.700 1.000 5 1999 2014
dbSNP: rs876657715
rs876657715
NF1
1 1.000 0.120 17 31338737 stop gained -/A delins 0.700 1.000 5 1996 2017
dbSNP: rs1057518807
rs1057518807
NF1
3 0.882 0.200 17 31338788 stop gained C/T snv 0.700 1.000 4 1996 2016
dbSNP: rs786202457
rs786202457
NF1
5 0.882 0.120 17 31350209 stop gained C/T snv 0.700 1.000 4 2000 2015