Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs11614913
HOXC6 ; MIR196A2
0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 111
rs6313
HTR2A
0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 82
rs2477686
PLCH2
0.807 0.040 1 2461209 intron variant G/C snv 0.64 7
rs3216733
HSPA5 ; LOC107987127
0.882 0.240 9 125241510 upstream gene variant CC/-;C;CCC;CCCC delins 3
rs215702
PDE1C
0.925 0.040 7 32360046 intron variant G/A snv 0.57 3
rs199696526
SEPTIN12
0.882 0.040 16 4786006 missense variant G/A snv 1.2E-04 5.6E-05 3
rs371195126
SEPTIN12
0.882 0.040 16 4783690 missense variant C/G;T snv 2.4E-05 3
rs779944215
ADCY10
0.925 0.040 1 167880125 frameshift variant GT/- delins 2
rs1042064
EPHX2
0.925 0.040 8 27544615 3 prime UTR variant T/C snv 0.38 2
rs140210148
LOC105375034 ; SLC26A8
0.925 0.040 6 36012301 missense variant C/T snv 3.1E-04 3.0E-04 2
rs147894843
SEMG1
0.925 0.040 20 45208496 missense variant G/A snv 1.0E-04 1.3E-04 2
rs1893316
CATSPER1
1.000 0.040 11 66026326 synonymous variant G/A snv 0.25 0.20 1
rs193143625
GFPT2
1.000 0.040 5 180316819 missense variant C/T snv 5.3E-04 4.6E-04 1
rs3788862
MAOA
1.000 0.040 X 43658116 intron variant A/G snv 1
rs116893490
TEKT2
1.000 0.040 1 36086835 missense variant G/A;T snv 4.3E-04; 4.0E-06 1
rs142723316
TEKT2 ; ADPRS
1.000 0.040 1 36086984 missense variant C/G;T snv 4.0E-06; 7.0E-04 1