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: rs1057518842
rs1057518842
NF1
5 1.000 0.080 17 31227215 splice region variant T/G snv 0.700 0
dbSNP: rs1057518904
rs1057518904
NF1
5 0.882 0.240 17 31221932 missense variant A/G snv 0.700 0
dbSNP: rs137854550
rs137854550
NF1
10 0.790 0.360 17 31258500 missense variant A/C;G snv 0.700 0
dbSNP: rs1555533285
rs1555533285
NF1
3 1.000 0.080 17 31325859 stop gained C/G snv 0.700 0
dbSNP: rs1555534929
rs1555534929
NF1
4 1.000 0.080 17 31337882 splice donor variant T/- del 0.700 0
dbSNP: rs1555618516
rs1555618516
NF1
3 0.925 0.080 17 31258405 missense variant G/C snv 0.700 0
dbSNP: rs1555619056
rs1555619056
NF1
3 0.925 0.160 17 31261858 splice donor variant G/A;C snv 0.700 0
dbSNP: rs267606600
rs267606600
NF1
4 1.000 0.120 17 31219018 frameshift variant AG/- del 1.4E-05 0.700 0
dbSNP: rs397514641
rs397514641
NF1
11 0.827 0.320 17 31169985 stop gained C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs587783031
rs587783031
APC
7 0.851 0.120 5 112840255 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs866445127
rs866445127
NF1
7 0.851 0.240 17 31352348 stop gained C/T snv 0.700 0
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 0.500 2 2013 2015
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 0.500 2 2013 2015
dbSNP: rs397514640
rs397514640
PAX6
4 0.882 0.160 11 31802733 missense variant G/A snv 0.010 < 0.001 1 2007 2007
dbSNP: rs786202112
rs786202112
NF1
7 0.827 0.280 17 31327839 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs797045139
rs797045139
NF1
4 0.882 0.120 17 31327718 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015