Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs72556554
rs72556554
TREX1 ; ATRIP ; ATRIP-TREX1
0.776 0.400 3 48466996 missense variant G/A;C snv 2.1E-04; 2.7E-04
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		0.800 1.000 16 2006 2017
dbSNP: rs121908117
rs121908117
TREX1 ; ATRIP ; ATRIP-TREX1
0.708 0.440 3 48466707 missense variant G/A snv
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		0.800 1.000 14 2006 2015
dbSNP: rs78408272
rs78408272
TREX1 ; ATRIP ; ATRIP-TREX1
1.000 0.120 3 48467257 missense variant T/A snv
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		0.800 1.000 8 2006 2013
dbSNP: rs78846775
rs78846775
TREX1 ; ATRIP ; ATRIP-TREX1
0.827 0.240 3 48467253 missense variant G/A;T snv
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		0.800 1.000 8 2006 2013
dbSNP: rs76224909
rs76224909
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
1.000 0.120 3 48467562 missense variant A/C snv 2.0E-05 7.0E-06
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		0.700 1.000 8 2006 2013
dbSNP: rs79318303
rs79318303
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
0.882 0.320 3 48467514 inframe deletion CCACTGGGTCTGCTGGCC/- delins
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		0.700 1.000 4 2010 2017
dbSNP: rs1553820518
rs1553820518
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
0.882 0.320 3 48467484 stop gained A/T snv
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		0.700 1.000 2 2007 2016
dbSNP: rs200773268
rs200773268
TREX1 ; ATRIP ; ATRIP-TREX1
1.000 0.120 3 48466945 missense variant G/A snv 6.0E-05 2.8E-05
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		0.700 1.000 2 2013 2014
dbSNP: rs760594164
rs760594164
TREX1 ; ATRIP ; ATRIP-TREX1
0.882 0.320 3 48466947 frameshift variant -/A delins 7.2E-05 3.5E-05
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		0.700 1.000 2 2013 2013
dbSNP: rs77371662
rs77371662
TREX1 ; ATRIP ; ATRIP-TREX1
0.882 0.320 3 48467020 inframe insertion -/GGC delins
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		0.700 1.000 2 2007 2011
dbSNP: rs184953805
rs184953805
TREX1 ; ATRIP ; ATRIP-TREX1
0.882 0.200 3 48467284 stop gained G/A snv
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		0.700 1.000 1 2016 2016
dbSNP: rs74689946
rs74689946
TREX1 ; ATRIP ; ATRIP-TREX1
1.000 0.120 3 48466861 frameshift variant TG/-;TGTG delins
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		0.700 1.000 1 2016 2016
dbSNP: rs760838030
rs760838030
TREX1 ; ATRIP ; ATRIP-TREX1
0.827 0.320 3 48466995 missense variant C/T snv 8.0E-06
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		0.700 1.000 1 2016 2016
dbSNP: rs78300695
rs78300695
TREX1 ; ATRIP ; ATRIP-TREX1
0.882 0.200 3 48466711 frameshift variant -/G delins 2.1E-05
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		0.700 1.000 1 2016 2016
dbSNP: rs1416519719
rs1416519719
TREX1 ; ATRIP ; ATRIP-TREX1
1.000 0.120 3 48467247 missense variant G/A snv 4.0E-06
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		0.700 0
dbSNP: rs1553820434
rs1553820434
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
0.882 0.320 3 48467354 frameshift variant -/G delins
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		0.700 0
dbSNP: rs74556809
rs74556809
TREX1 ; ATRIP ; ATRIP-TREX1
1.000 0.120 3 48467251 protein altering variant -/ATG delins
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		0.700 0
dbSNP: rs74876396
rs74876396
TREX1 ; ATRIP ; ATRIP-TREX1
1.000 0.120 3 48467047 splice acceptor variant -/CCCCCTGCTCCAAGCA delins
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		0.700 0
dbSNP: rs755919767
rs755919767
TREX1 ; ATRIP ; ATRIP-TREX1
1.000 0.120 3 48466873 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		0.700 0
dbSNP: rs76642637
rs76642637
TREX1 ; ATRIP ; ATRIP-TREX1
1.000 0.120 3 48467155 frameshift variant G/- del 4.0E-06 2.8E-05
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		0.700 0
dbSNP: rs768724007
rs768724007
TREX1 ; ATRIP ; ATRIP-TREX1
1.000 0.120 3 48467163 stop gained G/A;T snv 2.0E-05
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		0.700 0
dbSNP: rs78218009
rs78218009
TREX1 ; ATRIP ; ATRIP-TREX1
1.000 0.120 3 48467145 stop gained C/T snv 7.0E-06
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		0.700 0
dbSNP: rs78379807
rs78379807
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
1.000 0.120 3 48467261 inframe insertion -/CCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGATGC delins
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		0.700 0
dbSNP: rs78762691
rs78762691
TREX1 ; ATRIP ; ATRIP-TREX1
1.000 0.120 3 48467048 frameshift variant C/- delins
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		0.700 0
dbSNP: rs78948846
rs78948846
TREX1 ; ATRIP ; ATRIP-TREX1
1.000 0.120 3 48467277 frameshift variant -/CAGT delins
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		0.700 0