Disease: Dysmorphic facies
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 43
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 15
rs672601370
KIF1A
0.790 0.160 2 240775863 missense variant G/A snv 13
rs80338758
MED12
0.790 0.400 X 71127367 missense variant C/A;T snv 12
rs886041125
ANKRD11
0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 12
rs1135402761
SYT1
0.827 0.320 12 79448958 missense variant T/C snv 11
rs1554844486
KAT6B
0.827 0.160 10 75024984 frameshift variant GGGT/- del 10
rs1554846212
DUPD1 ; KAT6B
0.851 0.160 10 75030037 missense variant C/T snv 9
rs147030232
BBS2
0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06 8
rs1553196101
CDC42
0.925 0.080 1 22086507 missense variant T/C snv 8
rs267607116
TMEM67
0.851 0.160 8 93808861 missense variant G/A;C snv 8
rs368313959
OTUD6B
0.851 0.080 8 91078383 stop gained C/T snv 1.6E-04 1.0E-04 8
rs1554555063
TMEM67
0.882 0.160 8 93791324 splice region variant G/A snv 7
rs1556165162
HDAC8
0.882 0.120 X 72572657 frameshift variant GG/- delins 7
rs121434616
CUL4B
0.925 0.080 X 120544179 stop gained G/A snv 6
rs1553196134
CDC42
0.925 0.080 1 22086856 missense variant C/T snv 6
rs875989802
DDX3X
0.882 0.080 X 41344278 missense variant G/A snv 6
rs1189909394
KCNK4-TEX40 ; KCNK4
11 64298178 missense variant G/A;C snv 7.0E-06 5
rs1553196096
CDC42
1 22086463 missense variant G/A snv 5
rs1565369746
KCNK4-TEX40 ; KCNK4
11 64297507 missense variant C/A snv 5
rs587784000
NIPBL
0.882 0.120 5 37044480 missense variant G/C;T snv 5
rs1557045296
SLC6A8
1.000 X 153693971 missense variant C/T snv 4