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
rs56149945
NR3C1
0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 49
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45 33
rs237025
SUMO4 ; TAB2
0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 26
rs763361
CD226
0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 21
rs12708716
CLEC16A
0.807 0.320 16 11086016 intron variant A/G snv 0.37 7
rs6498169
CLEC16A
0.807 0.280 16 11155472 non coding transcript exon variant G/A snv 0.66 6
rs121918654
NR5A1
0.882 0.200 9 124503218 missense variant GC/TT mnv 6
rs6161
CYP11A1
0.851 0.080 15 74343027 missense variant C/T snv 2.5E-03 2.6E-03 5
rs12917716
CLEC16A
0.851 0.200 16 11095291 intron variant G/C snv 0.51 4
rs8048002
LOC112267907 ; CIITA
0.851 0.320 16 10898131 intron variant T/A;C snv 4
rs179363875
AIRE
0.882 0.080 21 44286049 missense variant C/T snv 3
rs1437439236
SGPL1
0.925 0.080 10 70871945 missense variant C/T snv 8.0E-06 3