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: rs1555165565
rs1555165565
1 1.000 0.040 11 64807638 frameshift variant -/G delins 0.700 0
dbSNP: rs1555993293
rs1555993293
NF2
1 1.000 0.040 22 29655628 stop gained G/A snv 0.700 0
dbSNP: rs1246637051
rs1246637051
5 0.851 0.040 11 65655714 missense variant C/T snv 7.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs2853669
rs2853669
35 0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs121912664
rs121912664
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2020 2020
dbSNP: rs121913500
rs121913500
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2019 2019
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2019 2019