Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs11225395
MMP8
0.776 0.360 11 102725749 intron variant A/C;G snv 11
rs876657380
ARID1B
0.851 0.360 6 157181155 frameshift variant AA/- delins 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
rs1553200431
COL11A1
0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins 8
rs10033900
CFI
0.807 0.040 4 109737911 intron variant T/C snv 0.54 7
rs1057518799
POGZ
0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 7
rs2946834
LINC02456 ; HELLPAR
0.807 0.200 12 102394036 non coding transcript exon variant A/G snv 0.63 7
rs1057518812
FBN1
0.827 0.240 15 48430742 missense variant T/A snv 6
rs1057518881
FBN1
0.827 0.200 15 48513656 missense variant C/A;G;T snv 6
rs1057518891
CHD7
0.851 0.120 8 60854479 stop gained C/T snv 6
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
rs1057518909
FBN1
0.925 0.120 15 48534099 frameshift variant CATT/- delins 5
rs1057518938
NDE1 ; MYH11
0.882 0.080 16 15724166 missense variant C/G snv 5
rs12423791
IGF1
0.925 0.040 12 102465050 intron variant G/C snv 2.8E-02 5
rs879255531
EHMT1
0.882 0.400 9 137728379 stop gained C/T snv 5
rs121912882
COL2A1 ; LOC105369752
0.851 0.280 12 47979534 missense variant G/A snv 4
rs131451
MMP11 ; LOC107985577
0.882 0.120 22 23771357 intron variant C/T snv 0.82 4
rs13382811
ZEB2
0.882 0.040 2 144466053 intron variant C/T snv 0.21 4
rs4373767 0.882 0.040 1 219586340 regulatory region variant C/T snv 0.32 4