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: rs786202782
rs786202782
NF1
3 0.925 0.120 17 31223476 frameshift variant ACTA/- delins 0.700 0
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2015 2015
dbSNP: rs786202457
rs786202457
NF1
5 0.882 0.120 17 31350209 stop gained C/T snv 0.010 1.000 1 2004 2004
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