Gene: TREX1 ×
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 0.810 1.000 8 2007 2015
dbSNP: rs72556554
rs72556554
TREX1 ; ATRIP ; ATRIP-TREX1
9 0.776 0.400 3 48466996 missense variant G/A;C snv 2.1E-04; 2.7E-04 0.700 1.000 9 2006 2017
dbSNP: rs79318303
rs79318303
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
3 0.882 0.320 3 48467514 inframe deletion CCACTGGGTCTGCTGGCC/- delins 0.700 1.000 4 2010 2017
dbSNP: rs1553820518
rs1553820518
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
3 0.882 0.320 3 48467484 stop gained A/T snv 0.700 1.000 2 2007 2016
dbSNP: rs77371662
rs77371662
TREX1 ; ATRIP ; ATRIP-TREX1
3 0.882 0.320 3 48467020 inframe insertion -/GGC delins 0.700 1.000 2 2007 2011
dbSNP: rs1553820434
rs1553820434
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
3 0.882 0.320 3 48467354 frameshift variant -/G delins 0.700 0
dbSNP: rs760594164
rs760594164
TREX1 ; ATRIP ; ATRIP-TREX1
3 0.882 0.320 3 48466947 frameshift variant -/A delins 7.2E-05 3.5E-05 0.700 0
dbSNP: rs760838030
rs760838030
TREX1 ; ATRIP ; ATRIP-TREX1
5 0.827 0.320 3 48466995 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs78846775
rs78846775
TREX1 ; ATRIP ; ATRIP-TREX1
5 0.827 0.240 3 48467253 missense variant G/A;T snv 0.010 1.000 1 2014 2014