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: rs121908117
rs121908117
TREX1 ; ATRIP ; ATRIP-TREX1
17 0.708 0.440 3 48466707 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs3810936
rs3810936
TNFSF15
12 0.742 0.320 9 114790605 synonymous variant T/C snv 0.71 0.75 0.010 1.000 1 2018 2018
dbSNP: rs4979462
rs4979462
TNFSF15
7 0.790 0.240 9 114804733 intron variant C/T snv 0.13 0.010 1.000 1 2018 2018
dbSNP: rs760838030
rs760838030
TREX1 ; ATRIP ; ATRIP-TREX1
5 0.827 0.320 3 48466995 missense variant C/T snv 8.0E-06 0.010 1.000 1 2017 2017