Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs776935407
SGSM3
0.851 0.080 22 40409261 missense variant T/A snv 4.1E-06 6
rs132985
PLA2G6
0.827 0.120 22 38167464 intron variant C/T snv 0.51 5
rs2284063
PLA2G6
0.851 0.160 22 38148291 non coding transcript exon variant A/G snv 0.40 4
rs5759167 0.851 0.160 22 43104206 TF binding site variant G/T snv 0.40 4
rs4608623
PLA2G6 ; MAFF
0.925 0.040 22 38201371 non coding transcript exon variant G/T snv 0.52 2
rs738322
PLA2G6
0.925 0.040 22 38172999 intron variant A/G snv 0.52 2
rs2074560
MX2
0.925 0.040 21 41380411 intron variant A/G snv 0.43 2
rs1800522
AIRE
1.000 0.040 21 44297667 synonymous variant T/C snv 1
rs45430
MX2
1.000 0.040 21 41374154 intron variant C/T snv 0.48 1
rs758272654
GNAS
0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 50
rs17577
SLC12A5-AS1 ; MMP9
0.649 0.520 20 46014472 missense variant G/A;C snv 0.16 31
rs6059655
RALY
0.790 0.080 20 34077942 intron variant A/G snv 0.95 10
rs927650
CYP24A1
0.763 0.240 20 54156202 intron variant T/A;C snv 9
rs4911414 0.882 0.120 20 34141638 regulatory region variant T/G snv 0.73 5
rs2284378
RALY
0.851 0.080 20 34000289 intron variant T/C;G snv 4
rs1015362 0.925 0.080 20 34150806 regulatory region variant C/T snv 0.42 3
rs749496294
ATRN
0.925 0.040 20 3562435 missense variant G/A snv 1.2E-05 1.4E-05 3
rs910873
PIGU
0.882 0.160 20 34583968 intron variant G/A;C snv 3
rs1204552
NORAD
1.000 0.040 20 36050981 non coding transcript exon variant T/A;C;G snv 2
rs1449409868
SSTR4
0.925 0.040 20 23035958 missense variant C/A;T snv 4.1E-06; 4.1E-06 2
rs1885120
LOC107985393 ; MIR499A ; MYH7B
1.000 0.040 20 34989186 intron variant C/G snv 0.96 2
rs291671
CDK5RAP1
1.000 0.040 20 33363039 intron variant G/A snv 0.92 2
rs4911442
NCOA6
1.000 0.040 20 34767243 intron variant G/A snv 0.93 2
rs1015363 1.000 0.040 20 34150529 intergenic variant G/A snv 0.69 1