Gene: NF1 ×
Source: BEFREE ×
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: rs199474750
rs199474750
NF1
2 1.000 0.120 17 31258502 missense variant G/A;C;T snv 0.810 1.000 1 1990 2018
dbSNP: rs137854552
rs137854552
NF1
2 0.807 0.280 17 31334927 stop gained C/T snv 0.730 1.000 3 1990 2008
dbSNP: rs137854562
rs137854562
NF1
1 0.925 0.120 17 31235623 stop gained C/T snv 0.720 1.000 2 2000 2015
dbSNP: rs1060500368
rs1060500368
NF1
1 1.000 0.120 17 31229157 missense variant G/C snv 0.710 1.000 1 2003 2018
dbSNP: rs760703505
rs760703505
NF1
1 0.882 0.200 17 31261733 stop gained C/T snv 8.0E-06 7.0E-06 0.710 1.000 1 1997 2019
dbSNP: rs768638173
rs768638173
NF1
3 0.882 0.200 17 31226474 stop gained C/T snv 4.0E-06 1.4E-05 0.710 1.000 1 2015 2015
dbSNP: rs772295894
rs772295894
NF1
1 0.807 0.280 17 31338739 stop gained C/A;G snv 4.0E-06 0.710 1.000 1 1995 2016
dbSNP: rs786202112
rs786202112
NF1
2 0.827 0.280 17 31327839 missense variant G/A snv 0.710 1.000 1 2000 2014
dbSNP: rs797045139
rs797045139
NF1
4 0.882 0.120 17 31327718 missense variant C/A;G;T snv 0.710 1.000 1 2003 2015
dbSNP: rs866445127
rs866445127
NF1
5 0.851 0.240 17 31352348 stop gained C/T snv 0.710 1.000 1 1994 2014
dbSNP: rs886041347
rs886041347
NF1
2 0.790 0.320 17 31229061 stop gained C/T snv 0.710 1.000 1 1997 2015
dbSNP: rs137854561
rs137854561
NF1
1 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