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: rs1555618656
rs1555618656
NF1
1 17 31259069 missense variant A/G snv 0.700 1.000 7 1996 2013
dbSNP: rs1131691118
rs1131691118
NF1
1 17 31200595 missense variant G/A;C snv 0.700 1.000 4 2000 2008
dbSNP: rs1131691080
rs1131691080
NF1
1 17 31223567 missense variant G/A;T snv 0.700 1.000 3 2008 2013
dbSNP: rs1131691123
rs1131691123
NF1
1 17 31325914 missense variant G/C;T snv 0.700 1.000 3 2013 2015
dbSNP: rs1329683225
rs1329683225
NF1
1 17 31357091 splice donor variant G/A snv 4.0E-06 0.700 1.000 3 2003 2015
dbSNP: rs1555536687
rs1555536687
NF1
1 17 31356983 stop gained C/T snv 0.700 1.000 3 2000 2015
dbSNP: rs1131691066
rs1131691066
NF1
1 17 31201024 intron variant G/A snv 0.700 1.000 2 2000 2008
dbSNP: rs1131691112
rs1131691112
NF1
1 17 31230313 missense variant T/C snv 0.700 1.000 2 2003 2014
dbSNP: rs1131691126
rs1131691126
NF1
1 17 31181717 stop gained G/A snv 0.700 1.000 2 2011 2014
dbSNP: rs1555536689
rs1555536689
NF1
1 17 31356986 stop gained C/T snv 0.700 1.000 2 2000 2003
dbSNP: rs1555608737
rs1555608737
NF1
1 17 31181718 stop gained G/A snv 0.700 1.000 2 2011 2014
dbSNP: rs1555614940
rs1555614940
NF1
1 17 31232752 stop gained G/T snv 0.700 1.000 2 2000 2007
dbSNP: rs587781747
rs587781747
NF1
1 17 31229124 missense variant T/A;C snv 0.700 1.000 2 2012 2013
dbSNP: rs769048538
rs769048538
NF1
1 17 31181760 stop gained C/G;T snv 4.0E-06 0.700 1.000 2 2008 2015
dbSNP: rs876658235
rs876658235
NF1
1 17 31235988 stop gained G/A snv 0.700 1.000 2 1997 2013
dbSNP: rs876660826
rs876660826
NF1
1 17 31227608 splice donor variant T/C;G snv 1.2E-05 0.700 1.000 2 2006 2006
dbSNP: rs1131691074
rs1131691074
NF1
1 17 31358518 stop gained C/A snv 0.700 1.000 1 2009 2009
dbSNP: rs1131691079
rs1131691079
NF1
1 17 31338022 stop gained C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs1131691085
rs1131691085
NF1
1 17 31206257 stop gained G/A snv 0.700 1.000 1 2007 2007
dbSNP: rs1131691091
rs1131691091
NF1
1 17 31337497 stop gained C/G snv 0.700 1.000 1 2006 2006
dbSNP: rs1131691098
rs1131691098
NF1
1 17 31265266 frameshift variant A/- delins 0.700 1.000 1 2003 2003
dbSNP: rs1131691099
rs1131691099
NF1
1 17 31226521 stop gained G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs1131691109
rs1131691109
NF1
1 17 31156073 frameshift variant T/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1131691115
rs1131691115
NF1
1 17 31340504 splice acceptor variant G/C snv 0.700 1.000 1 2013 2013
dbSNP: rs1131691130
rs1131691130
NF1
1 17 31223518 stop gained G/A snv 0.700 1.000 1 2000 2000