Disease: Immune System Diseases
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
rs3184504
SH2B3 ; ATXN2
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 92
rs11221332
ETS1
0.763 0.280 11 128511079 intron variant C/A;T snv 13
rs3748816
MMEL1
0.827 0.200 1 2595307 missense variant A/G snv 0.41 0.46 7