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: rs886041347
rs886041347
NF1
13 0.790 0.320 17 31229061 stop gained C/T snv 0.710 1.000 9 1997 2015
dbSNP: rs1057519369
rs1057519369
NF1
13 0.790 0.280 17 31340532 frameshift variant -/G delins 0.700 0
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: rs137854552
rs137854552
NF1
7 0.807 0.280 17 31334927 stop gained C/T snv 0.730 1.000 9 1990 2008
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: rs786202112
rs786202112
NF1
7 0.827 0.280 17 31327839 missense variant G/A snv 0.710 1.000 13 2000 2014
dbSNP: rs786201367
rs786201367
NF1
6 0.827 0.280 17 31357308 stop gained C/T snv 0.700 1.000 11 1995 2017
dbSNP: rs771529172
rs771529172
NF1
6 0.827 0.280 17 31327719 missense variant G/A;C;T snv 0.700 1.000 8 2003 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: 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: rs1131691075
rs1131691075
NF1
6 0.827 0.280 17 31235773 splice donor variant G/A;T snv 0.700 1.000 3 2000 2013
dbSNP: rs1064794277
rs1064794277
NF1
5 0.827 0.280 17 31232832 missense variant G/A;C;T snv 0.700 1.000 2 2007 2016
dbSNP: rs1555534433
rs1555534433
NF1
5 0.827 0.280 17 31335032 splice donor variant G/A snv 0.700 1.000 2 2000 2013
dbSNP: rs1567847905
rs1567847905
NF1
5 0.827 0.280 17 31227232 stop gained C/T snv 0.700 1.000 1 2012 2012
dbSNP: rs1131691073
rs1131691073
NF1
6 0.827 0.280 17 31340553 stop gained C/T snv 0.700 0
dbSNP: rs1567862991
rs1567862991
NF1
5 0.827 0.280 17 31260481 stop gained C/T snv 0.700 0
dbSNP: rs786203896
rs786203896
NF1
6 0.827 0.280 17 31330468 stop gained G/T snv 0.700 0
dbSNP: rs876660696
rs876660696
NF1
6 0.827 0.280 17 31335016 stop gained G/A snv 0.700 0
dbSNP: rs866445127
rs866445127
NF1
7 0.851 0.240 17 31352348 stop gained C/T snv 0.710 1.000 7 1994 2014
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: rs876657714
rs876657714
NF1
4 0.882 0.200 17 31327535 stop gained C/T snv 0.700 1.000 11 1994 2013
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: rs1057518904
rs1057518904
NF1
5 0.882 0.240 17 31221932 missense variant A/G snv 0.700 1.000 6 1994 2015
dbSNP: rs797045139
rs797045139
NF1
4 0.882 0.120 17 31327718 missense variant C/A;G;T snv 0.710 1.000 6 2003 2015