Gene: PTPN22 ×
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 0.710 1.000 2 2016 2017
dbSNP: rs1217414
rs1217414
PTPN22 ; AP4B1-AS1
3 0.882 0.120 1 113870045 non coding transcript exon variant G/A snv 0.36 0.020 1.000 2 2014 2017
dbSNP: rs1217418
rs1217418
PTPN22 ; AP4B1-AS1
2 0.925 0.120 1 113858609 intron variant A/G snv 0.53 0.57 0.010 1.000 1 2014 2014
dbSNP: rs2488457
rs2488457
PTPN22 ; AP4B1-AS1
11 0.763 0.480 1 113872746 intron variant G/A;C snv 0.010 1.000 1 2017 2017