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: rs733618
rs733618
CTLA4
12 0.763 0.440 2 203866221 upstream gene variant T/C snv 0.10 0.010 1.000 1 2012 2012
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.010 1.000 1 2012 2012
dbSNP: rs80292941
rs80292941
CYTOR ; LOC101928152
2 1.000 0.040 2 87480257 non coding transcript exon variant A/T snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2019 2019