Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs6475606
CDKN2B-AS1
0.882 0.080 9 22081851 intron variant C/T snv 0.62 5
rs6841581
EDNRA
0.882 0.080 4 147480038 upstream gene variant G/A;T snv 4
rs10733376
CDKN2B-AS1
1.000 0.080 9 22114470 intron variant G/C snv 0.64 3
rs12411886
CNNM2
0.882 0.080 10 102925542 intron variant C/A snv 7.8E-02 3
rs2280543
BET1L
0.925 0.080 11 203788 3 prime UTR variant C/T snv 4.7E-02 3
rs595244
FBN1
0.882 0.080 15 48548638 intron variant C/T snv 7.7E-02 3
rs6842241
EDNRA
0.925 0.080 4 147479667 upstream gene variant C/A snv 0.22 3
rs727333
DSCAM
1.000 0.080 21 40331020 intron variant C/A snv 6.6E-02 3
rs7866503
CDKN2B-AS1
0.882 0.080 9 22091925 intron variant G/T snv 0.50 3
rs8087799 0.882 0.080 18 22605468 regulatory region variant G/A snv 0.43 3
rs919433
ANKRD44 ; ANKRD44-IT1
0.882 0.080 2 197301841 intron variant G/A snv 0.38 3
rs10958409 1.000 0.080 8 54414531 intergenic variant G/A snv 0.18 2
rs11777927
TOX
1.000 0.080 8 58968480 intron variant A/C;T snv 2
rs2071307
ELN
0.925 0.080 7 74056384 missense variant G/A;C snv 0.32; 4.0E-06 2
rs2621215
COL1A2
0.925 0.080 7 94426732 non coding transcript exon variant G/A;T snv 2
rs3783107
COL4A1
1.000 0.080 13 110189755 intron variant G/A snv 0.36 2
rs700651
BOLL
1.000 0.080 2 197766990 intron variant G/A snv 0.73 2
rs10230207 1.000 0.080 7 19571684 intron variant G/C;T snv 1
rs1052270
TMOD1 ; LOC105376168
1.000 0.080 9 97513142 non coding transcript exon variant C/T snv 0.53 1
rs1055137031
ELN
1.000 0.080 7 74056435 missense variant C/T snv 1
rs1060504230
ENG
1.000 0.080 9 127843133 missense variant GG/TT mnv 1
rs1064796150
ELN
1.000 0.080 7 74056383 missense variant TG/CA mnv 1
rs1072737 1.000 0.080 8 54501764 intergenic variant T/G snv 0.36 1
rs10819634 1.000 0.080 9 99097794 intergenic variant C/T snv 0.22 1
rs10943471 1.000 0.080 6 77560245 intergenic variant A/G snv 0.22 1