Disease: Dysmorphic facies
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 72
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs267608327
MECP2
0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 25
rs147484110
CSTB
0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 11
rs886041095
GRIN2B
0.827 0.160 12 13571930 missense variant C/T snv 11
rs1553511224
TBR1
0.882 0.080 2 161423825 frameshift variant -/C delins 10
rs863225094
PPP2R1A
0.827 0.160 19 52213076 missense variant G/A snv 10
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv 9
rs1057519521
EBF3
0.851 0.120 10 129963375 frameshift variant TCTC/- del 8
rs878853165
HOOK2 ; MAST1
0.882 0.200 19 12843558 missense variant C/T snv 6