Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1336795098
NUP214
9 131127544 synonymous variant A/G snv 7.0E-06 1
rs397516808
PTPN11
12 112446327 synonymous variant A/G snv 1.6E-05 1.4E-05 1
rs371194629
HLA-G
0.790 0.320 6 29830804 3 prime UTR variant -/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT ins 8
rs11614913
HOXC6 ; MIR196A2
0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 111
rs10774671
OAS1
0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67 14
rs12252
IFITM3
0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13 23
rs1800629
TNF
0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 169
rs16944
IL1B
0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
rs8099917 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 60
rs1799889
SERPINE1
0.649 0.600 7 101126430 upstream gene variant A/G snv 31
rs4553808
CTLA4
0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 28
rs12980275 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 23
rs4804803
CD209
0.732 0.360 19 7747847 upstream gene variant A/G snv 0.26 15
rs10814325
RECK
0.827 0.200 9 36036597 upstream gene variant T/A;C;G snv 7
rs35068180
MMP3
0.851 0.040 11 102845217 upstream gene variant A/-;AA delins 5
rs4273729 0.851 0.240 6 32710820 upstream gene variant C/A;G;T snv 5
rs1818879 0.827 0.120 7 22733108 downstream gene variant G/A;C snv 7