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: 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 2020 2020
dbSNP: rs121913019
rs121913019
ERCC2
3 0.925 0.240 19 45354774 missense variant T/C;G snv 4.0E-06 0.010 < 0.001 1 2016 2016
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2020 2020
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
14 0.752 0.280 10 88941309 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs4925
rs4925
GSTO1
28 0.677 0.560 10 104263031 missense variant C/A snv 0.25 0.23 0.010 1.000 1 2017 2017