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: rs1555535032
rs1555535032
NF1
9 0.882 0.120 17 31338734 frameshift variant TTAC/- delins 0.700 0
dbSNP: rs727502902
rs727502902
4 0.882 0.080 7 140753338 inframe insertion -/TAG delins 4.0E-06 0.700 0
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.929 28 2011 2020
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.926 27 2011 2020
dbSNP: rs1057519903
rs1057519903
28 0.683 0.080 1 226064434 missense variant A/T snv 0.020 1.000 2 2018 2018
dbSNP: rs777345988
rs777345988
4 0.851 0.080 6 135203257 missense variant A/C;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs9694676
rs9694676
2 0.925 0.080 8 104588948 5 prime UTR variant A/G snv 8.6E-02 0.20 0.010 1.000 1 2016 2016