Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2476601
AP4B1-AS1 ; PTPN22
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 121
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36 53
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45 33
rs2853676
TERT
0.667 0.560 5 1288432 intron variant T/A;C snv 29
rs2230926
TNFAIP3
0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 27
rs2736340 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 22
rs5029939
TNFAIP3
0.701 0.440 6 137874586 intron variant C/G snv 0.13 19
rs4728142 0.732 0.320 7 128933913 upstream gene variant G/A snv 0.38 18
rs13277113
BLK
0.695 0.520 8 11491677 intron variant G/A snv 0.25 18
rs2292239
ERBB3
0.742 0.480 12 56088396 intron variant T/G snv 0.65 13
rs951005 0.807 0.200 9 34743684 intron variant G/A snv 0.78 10
rs11171739
ERBB3
0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49 10
rs10758593
GLIS3
0.827 0.240 9 4292083 intron variant G/A snv 0.45 8
rs10814916
GLIS3
0.851 0.200 9 4293150 intron variant A/C snv 0.57 7
rs2254546 0.807 0.400 8 11486171 upstream gene variant A/G snv 0.83 6
rs7812879 0.807 0.320 8 11482672 upstream gene variant T/A;C snv 6
rs2492358 0.851 0.160 9 34737831 intron variant C/T snv 0.78 5
rs7020673
GLIS3
0.882 0.200 9 4291747 intron variant C/A;G snv 4
rs2248932
BLK
0.882 0.160 8 11534141 intron variant A/G snv 0.60 3
rs17000730
TYK2
0.882 0.120 19 10380572 5 prime UTR variant T/C snv 5.0E-03 3
rs280501
TYK2
0.882 0.120 19 10380646 upstream gene variant C/T snv 0.20 3
rs3094013
HCP5
1.000 0.080 6 31466589 non coding transcript exon variant G/A snv 7.6E-02 2