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 1.000 0.877 81 2005 2019
dbSNP: rs1217407
rs1217407
PTPN22 ; AP4B1-AS1
1 1.000 0.120 1 113851126 intron variant A/G snv 0.77 0.700 1.000 1 2009 2009
dbSNP: rs1217413
rs1217413
PTPN22 ; AP4B1-AS1
1 1.000 0.120 1 113815128 intron variant G/A snv 0.82 0.700 1.000 1 2007 2007
dbSNP: rs1217418
rs1217418
PTPN22 ; AP4B1-AS1
2 0.925 0.120 1 113858609 intron variant A/G snv 0.53 0.57 0.700 1.000 1 2009 2009
dbSNP: rs33996649
rs33996649
PTPN22 ; AP4B1-AS1
13 0.732 0.400 1 113852067 missense variant C/T snv 1.7E-02 1.6E-02 0.040 1.000 4 2011 2019
dbSNP: rs1310182
rs1310182
PTPN22 ; AP4B1-AS1
4 0.882 0.360 1 113830881 intron variant A/C;G snv 0.56 0.010 < 0.001 1 2010 2010
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