Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11451044
COPZ1
12 54322000 intron variant -/A ins 0.68 1
rs5833486
PSD4
2 113199603 intron variant -/A delins 0.29 1
rs144658219
CD36
7 80667649 intron variant -/ACTTGATT delins 0.34 1
rs35385468 0.925 0.120 6 26101212 upstream gene variant -/C delins 9.7E-03 5
rs386406569 0.925 0.120 6 26101212 upstream gene variant -/C delins 5
rs3840870
COL1A1
17 50184820 3 prime UTR variant -/CTTG delins 13
rs140307022
CLCNKB
1 16043683 upstream gene variant -/GTCTG;TTCTG delins 1
rs113700287
THRB
3 24293020 intron variant -/GTT delins 4
rs111721712
HLA-B
6 31347630 intron variant -/T delins 0.55 1
rs11428167 3 196184704 intergenic variant -/T delins 0.13 1
rs67250268
H2AC6
6 26135269 intron variant A/-;AA delins 4
rs35014657 2 62167634 upstream gene variant A/-;AA;AAA delins 1
rs2072671
CDA
0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 16
rs592423 6 139519556 intron variant A/C snv 0.50 6
rs1150660 0.925 0.120 6 26101212 upstream gene variant A/C snv 0.73 5
rs4953318
PRKCE
2 46127912 intron variant A/C snv 0.43 5
rs11244669
DHX32 ; BCCIP
10 125844213 intron variant A/C snv 0.28 4
rs463312
TUBB1
1.000 0.040 20 59022915 missense variant A/C snv 7.7E-02 5.7E-02 4
rs9357371
MED20
6 41917581 5 prime UTR variant A/C snv 0.20 4
rs9358903 0.925 0.120 6 26061721 intergenic variant A/C snv 0.38 4
rs9467636
SLC17A2
0.925 0.120 6 25919321 intron variant A/C snv 0.34 4
rs10457631 6 135124041 intergenic variant A/C snv 0.25 2
rs12196049 6 121464945 intergenic variant A/C snv 0.18 2
rs12315434
R3HDM2
1.000 0.040 12 57387153 intron variant A/C snv 0.16 2
rs2026310 6 135144413 intergenic variant A/C snv 0.27 2