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 0.950 80 2004 2020
dbSNP: rs1217412
rs1217412
PTPN22 ; AP4B1-AS1
1 1.000 0.120 1 113814589 3 prime UTR variant G/A snv 0.78 0.010 1.000 1 2007 2007
dbSNP: rs1217419
rs1217419
PTPN22 ; AP4B1-AS1
1 1.000 0.120 1 113859282 intron variant T/G snv 0.56 0.010 1.000 1 2014 2014
dbSNP: rs1450261764
rs1450261764
PTPN22 ; AP4B1-AS1
1 1.000 0.120 1 113856592 missense variant G/T snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs2488457
rs2488457
PTPN22 ; AP4B1-AS1
11 0.763 0.480 1 113872746 intron variant G/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs56048322
rs56048322
PTPN22 ; AP4B1-AS1
1 1.000 0.120 1 113829592 missense variant C/G snv 5.8E-03 5.9E-03 0.010 1.000 1 2016 2016