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: rs137854557
rs137854557
NF1
2 1.000 0.120 17 31214524 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 4 2001 2013
dbSNP: rs1555614022
rs1555614022
NF1
2 1.000 0.120 17 31227607 splice donor variant G/C;T snv 0.700 1.000 4 2006 2015
dbSNP: rs1555614296
rs1555614296
NF1
2 1.000 0.120 17 31229289 frameshift variant A/- del 0.700 1.000 4 2000 2011
dbSNP: rs199474746
rs199474746
NF1
2 1.000 0.120 17 31227536 missense variant C/A;G snv 4.0E-06 0.700 1.000 4 2000 2016
dbSNP: rs199474785
rs199474785
NF1
2 1.000 0.120 17 31229145 missense variant C/T snv 0.700 1.000 4 2000 2015
dbSNP: rs587781807
rs587781807
NF1
2 1.000 0.120 17 31226460 frameshift variant C/-;CC delins 0.700 1.000 4 1995 2015
dbSNP: rs760703505
rs760703505
NF1
5 0.882 0.200 17 31261733 stop gained C/T snv 8.0E-06 7.0E-06 0.700 1.000 4 1997 2015
dbSNP: rs786201367
rs786201367
NF1
6 0.827 0.280 17 31357308 stop gained C/T snv 0.700 1.000 4 1995 2006
dbSNP: rs863224491
rs863224491
NF1
2 1.000 0.120 17 31330830 non coding transcript exon variant A/C;G snv 0.700 1.000 4 1996 2014
dbSNP: rs876660696
rs876660696
NF1
6 0.827 0.280 17 31335016 stop gained G/A snv 0.700 1.000 4 2011 2015
dbSNP: rs1060500376
rs1060500376
NF1
3 0.925 0.240 17 31337881 splice donor variant G/A;C;T snv 4.0E-06; 4.0E-06 0.700 1.000 3 2004 2013
dbSNP: rs1131691067
rs1131691067
NF1
2 1.000 0.120 17 31203089 intron variant A/G snv 0.700 1.000 3 2000 2013
dbSNP: rs1131691080
rs1131691080
NF1
1 17 31223567 missense variant G/A;T snv 0.700 1.000 3 2008 2013
dbSNP: rs1131691100
rs1131691100
NF1
2 1.000 0.120 17 31155981 splice acceptor variant A/G;T snv 0.700 1.000 3 2008 2015
dbSNP: rs1131691122
rs1131691122
NF1
2 1.000 0.120 17 31229466 splice donor variant G/A;T snv 0.700 1.000 3 2007 2015
dbSNP: rs1131691123
rs1131691123
NF1
1 17 31325914 missense variant G/C;T snv 0.700 1.000 3 2013 2015
dbSNP: rs1321848637
rs1321848637
NF1
2 1.000 0.120 17 31232841 frameshift variant CTCA/- delins 0.700 1.000 3 2003 2011
dbSNP: rs1329683225
rs1329683225
NF1
1 17 31357091 splice donor variant G/A snv 4.0E-06 0.700 1.000 3 2003 2015
dbSNP: rs137854560
rs137854560
NF1
2 1.000 0.120 17 31249093 stop gained C/T snv 4.0E-06 0.700 1.000 3 2000 2013
dbSNP: rs1555536687
rs1555536687
NF1
1 17 31356983 stop gained C/T snv 0.700 1.000 3 2000 2015
dbSNP: rs199474762
rs199474762
NF1
2 1.000 0.120 17 31227254 missense variant T/C;G snv 0.700 1.000 3 2000 2011
dbSNP: rs199474774
rs199474774
NF1
2 1.000 0.120 17 31223455 missense variant T/C;G snv 0.700 1.000 3 2006 2014
dbSNP: rs267606600
rs267606600
NF1
4 1.000 0.120 17 31219018 frameshift variant AG/- del 1.4E-05 0.700 1.000 3 1996 2009
dbSNP: rs587781517
rs587781517
NF1
2 1.000 0.120 17 31200421 splice acceptor variant G/A;C;T snv 0.700 1.000 3 1999 2008
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 3 1995 2003