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 0.900 0.972 36 2004 2019
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 2013 2016
dbSNP: rs33996649
rs33996649
PTPN22 ; AP4B1-AS1
13 0.732 0.400 1 113852067 missense variant C/T snv 1.7E-02 1.6E-02 0.020 1.000 2 2011 2017
dbSNP: rs3765598
rs3765598
PTPN22 ; AP4B1-AS1
1 1.000 0.080 1 113851841 intron variant C/T snv 0.15 0.020 1.000 2 2013 2016
dbSNP: rs3811021
rs3811021
PTPN22 ; RSBN1 ; AP4B1-AS1
2 1.000 0.080 1 113814041 3 prime UTR variant A/G snv 0.15 0.010 1.000 1 2016 2016