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: rs398122527
rs398122527
DLX5
3 0.882 0.080 7 97021048 missense variant C/A snv 0.700 0
dbSNP: rs587777842
rs587777842
DLX5
1 1.000 0.080 7 97024509 stop gained C/A snv 0.700 0
dbSNP: rs863225437
rs863225437
MAP3K20 ; MAP3K20-AS1
3 0.882 0.080 2 173232359 missense variant T/G snv 0.700 0
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 21 2012 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 21 2012 2019
dbSNP: rs761885185
rs761885185
TP63
3 0.882 0.120 3 189869329 missense variant C/T snv 4.0E-06 0.020 1.000 2 2004 2011
dbSNP: rs121913530
rs121913530
KRAS
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1225976306
rs1225976306
BRAF ; LOC105375536
8 0.807 0.160 7 140924673 missense variant C/T snv 9.3E-06 0.010 1.000 1 2015 2015