Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 1.000 2 2008 2017
dbSNP: rs2071592
rs2071592
ATP6V1G2 ; NFKBIL1 ; ATP6V1G2-DDX39B
3 0.882 0.200 6 31547563 intron variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs6590330
rs6590330 		5 0.851 0.280 11 128441164 intergenic variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs7117932
rs7117932
ETS1 ; LOC105369565
2 1.000 0.080 11 128567058 intron variant C/T snv 0.37 0.010 1.000 1 2017 2017