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 2016 2016
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2016 2016
dbSNP: rs149660944
rs149660944
CHST8
5 0.851 0.200 19 33772017 missense variant C/A;T snv 6.5E-05; 4.0E-03 0.010 1.000 1 2017 2017
dbSNP: rs151339002
rs151339002
FZD6
2 1.000 8 103329863 stop gained G/A;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs199473704
rs199473704
TRPV3
5 0.882 0.080 17 3524224 missense variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs59616921
rs59616921
KRT9
7 0.807 0.120 17 41571506 missense variant G/A snv 0.010 1.000 1 1995 1995