Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 20
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- delins 20
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv 18
rs111854391
TGFBR1
0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 18
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs1555639076
BPTF
0.790 0.400 17 67893677 splice donor variant A/- delins 16
rs28940881
LOC107984363 ; TYR
0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05 16
rs1057518848
TCF4
0.827 0.240 18 55229003 frameshift variant -/ATTG delins 15
rs113422242
FBN1
0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 14
rs1568019012
LAMA1
0.790 0.360 18 6985616 stop gained G/A snv 13
rs397507478
BRAF
0.790 0.440 7 140777014 missense variant C/A snv 12
rs876657380
ARID1B
0.851 0.360 6 157181155 frameshift variant AA/- delins 11
rs11225395
MMP8
0.776 0.360 11 102725749 intron variant A/C;G snv 11
rs1327062642
TULP1
0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06 11
rs755604487
PHIP
0.790 0.200 6 79026079 stop gained G/A;C snv 10
rs1085307138
PUF60 ; SCRIB
0.807 0.160 8 143817591 splice donor variant C/T snv 9
rs121912683
SLC25A4
0.851 0.200 4 185145020 missense variant C/A snv 4.0E-06 7.0E-06 9
rs1553200431
COL11A1
0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins 8
rs61754381
LOC107984363 ; TYR
0.790 0.200 11 89227816 splice region variant T/A;C snv 9.5E-04; 8.0E-06 8
rs10033900
CFI
0.807 0.040 4 109737911 intron variant T/C snv 0.54 7
rs2946834
LINC02456 ; HELLPAR
0.807 0.200 12 102394036 non coding transcript exon variant A/G snv 0.63 7
rs1057518799
POGZ
0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 7
rs524952 0.827 0.040 15 34713685 intergenic variant T/A snv 0.50 6
rs634990 0.827 0.040 15 34713872 intergenic variant T/C snv 0.48 6
rs1057518891
CHD7
0.851 0.120 8 60854479 stop gained C/T snv 6