Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777445
rs587777445
1.000 2 162276832 missense variant C/T snv
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
AICARDI-GOUTIERES SYNDROME 7
0.800 1.000 2 2014 2014
dbSNP: rs587777446
rs587777446
0.807 0.200 2 162273913 missense variant C/T snv 4.0E-06
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
AICARDI-GOUTIERES SYNDROME 7
0.800 1.000 2 2014 2014
dbSNP: rs587777447
rs587777447
1.000 2 162288221 missense variant T/C snv
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
AICARDI-GOUTIERES SYNDROME 7
0.800 1.000 2 2014 2014
dbSNP: rs587777448
rs587777448
1.000 2 162273914 missense variant G/A snv
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
AICARDI-GOUTIERES SYNDROME 7
0.800 1.000 2 2014 2014
dbSNP: rs587777449
rs587777449
0.851 0.320 2 162282494 missense variant T/A;C snv 8.0E-06
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
AICARDI-GOUTIERES SYNDROME 7
0.800 1.000 2 2014 2014
dbSNP: rs587777575
rs587777575
1.000 2 162281498 missense variant C/T snv
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
AICARDI-GOUTIERES SYNDROME 7
0.800 1.000 2 2014 2014
dbSNP: rs587777576
rs587777576
1.000 2 162282558 missense variant G/A snv
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
AICARDI-GOUTIERES SYNDROME 7
0.800 1.000 2 2014 2014
dbSNP: rs672601336
rs672601336
1.000 2 162281369 missense variant C/T snv
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
AICARDI-GOUTIERES SYNDROME 7
0.800 1.000 2 2014 2014
dbSNP: rs376048533
rs376048533
0.851 0.240 2 162272377 missense variant C/T snv 2.8E-05
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
AICARDI-GOUTIERES SYNDROME 7
0.700 1.000 2 2015 2017
dbSNP: rs1559810905
rs1559810905
0.827 0.240 2 162273810 missense variant T/A snv
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
AICARDI-GOUTIERES SYNDROME 7
0.700 1.000 1 2020 2020
dbSNP: rs1320095792
rs1320095792
1.000 2 162281335 missense variant A/T snv 4.0E-06
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
AICARDI-GOUTIERES SYNDROME 7
0.700 0
dbSNP: rs1553696482
rs1553696482
0.925 2 162267342 missense variant A/C snv
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
AICARDI-GOUTIERES SYNDROME 7
0.700 0
dbSNP: rs1558875029
rs1558875029
0.925 2 162306761 frameshift variant -/C delins
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
AICARDI-GOUTIERES SYNDROME 7
0.700 0
dbSNP: rs774888783
rs774888783
1.000 2 162278232 stop gained G/A;T snv 4.1E-06; 4.1E-06
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
AICARDI-GOUTIERES SYNDROME 7
0.700 0
dbSNP: rs923064561
rs923064561
0.925 2 162288244 missense variant A/C;G snv
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
AICARDI-GOUTIERES SYNDROME 7
0.700 0