Source: ALL
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: rs138603088
rs138603088 		0.882 0.120 20 36930783 missense variant A/T snv 2.4E-05 2.1E-05
CUI: C2749659
Disease: AICARDI-GOUTIERES SYNDROME 5 (disorder)
AICARDI-GOUTIERES SYNDROME 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.800 1.000 8 2009 2017
dbSNP: rs121434520
rs121434520 		1.000 0.120 20 36935170 missense variant T/G snv 7.0E-06
CUI: C2749659
Disease: AICARDI-GOUTIERES SYNDROME 5 (disorder)
AICARDI-GOUTIERES SYNDROME 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.800 1.000 7 2009 2018
dbSNP: rs121434521
rs121434521 		1.000 0.120 20 36919456 missense variant T/C snv
CUI: C2749659
Disease: AICARDI-GOUTIERES SYNDROME 5 (disorder)
AICARDI-GOUTIERES SYNDROME 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.800 1.000 7 2009 2018
dbSNP: rs369035155
rs369035155 		1.000 0.120 20 36935110 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C2749659
Disease: AICARDI-GOUTIERES SYNDROME 5 (disorder)
AICARDI-GOUTIERES SYNDROME 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.800 1.000 7 2009 2018
dbSNP: rs387906948
rs387906948 		1.000 0.120 20 36935111 missense variant G/A snv 8.0E-06
CUI: C2749659
Disease: AICARDI-GOUTIERES SYNDROME 5 (disorder)
AICARDI-GOUTIERES SYNDROME 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.800 1.000 7 2009 2018
dbSNP: rs515726140
rs515726140 		1.000 0.120 20 36912462 missense variant T/C snv
CUI: C2749659
Disease: AICARDI-GOUTIERES SYNDROME 5 (disorder)
AICARDI-GOUTIERES SYNDROME 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.800 1.000 7 2009 2018
dbSNP: rs515726145
rs515726145 		1.000 0.120 20 36935104 missense variant C/T snv 4.0E-06
CUI: C2749659
Disease: AICARDI-GOUTIERES SYNDROME 5 (disorder)
AICARDI-GOUTIERES SYNDROME 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.800 1.000 7 2009 2018
dbSNP: rs138603088
rs138603088 		0.882 0.120 20 36930783 missense variant A/T snv 2.4E-05 2.1E-05
CUI: C3280721
Disease: CHILBLAIN LUPUS 2
CHILBLAIN LUPUS 2 		0.800 0
dbSNP: rs121434516
rs121434516 		0.925 0.120 20 36930760 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C2749659
Disease: AICARDI-GOUTIERES SYNDROME 5 (disorder)
AICARDI-GOUTIERES SYNDROME 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 1.000 7 2009 2018
dbSNP: rs138603088
rs138603088 		0.882 0.120 20 36930783 missense variant A/T snv 2.4E-05 2.1E-05
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 1.000 7 2009 2018
dbSNP: rs774964432
rs774964432 		1.000 0.120 20 36905431 missense variant A/G snv 4.2E-05
CUI: C2749659
Disease: AICARDI-GOUTIERES SYNDROME 5 (disorder)
AICARDI-GOUTIERES SYNDROME 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 1.000 7 2009 2018
dbSNP: rs121434517
rs121434517 		1.000 0.120 20 36935105 stop gained G/A snv 8.0E-06 7.0E-06
CUI: C2749659
Disease: AICARDI-GOUTIERES SYNDROME 5 (disorder)
AICARDI-GOUTIERES SYNDROME 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 1.000 3 2009 2015
dbSNP: rs267607027
rs267607027 		0.925 0.120 20 36935048 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C2749659
Disease: AICARDI-GOUTIERES SYNDROME 5 (disorder)
AICARDI-GOUTIERES SYNDROME 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 1.000 3 2010 2011
dbSNP: rs369587937
rs369587937 		1.000 0.120 20 36905450 stop gained G/A;T snv 8.0E-06; 8.0E-06
CUI: C2749659
Disease: AICARDI-GOUTIERES SYNDROME 5 (disorder)
AICARDI-GOUTIERES SYNDROME 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 1.000 3 2009 2017
dbSNP: rs11696169
rs11696169 		20 36923214 intron variant T/C snv 6.3E-02
CUI: C0406208
Disease: Suntan
Suntan 		0.700 1.000 1 2018 2018
dbSNP: rs1291146
rs1291146 		20 36900598 intron variant T/C snv 0.69
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs4810362
rs4810362 		20 36950277 intron variant A/G snv 0.22
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs121434518
rs121434518 		1.000 0.120 20 36935093 stop gained G/A snv
CUI: C2749659
Disease: AICARDI-GOUTIERES SYNDROME 5 (disorder)
AICARDI-GOUTIERES SYNDROME 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121434519
rs121434519 		1.000 0.120 20 36897926 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C2749659
Disease: AICARDI-GOUTIERES SYNDROME 5 (disorder)
AICARDI-GOUTIERES SYNDROME 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1568762986
rs1568762986 		1.000 0.120 20 36905366 frameshift variant T/- delins
CUI: C2749659
Disease: AICARDI-GOUTIERES SYNDROME 5 (disorder)
AICARDI-GOUTIERES SYNDROME 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs515726139
rs515726139 		1.000 0.120 20 36912509 missense variant A/G snv 4.0E-06
CUI: C2749659
Disease: AICARDI-GOUTIERES SYNDROME 5 (disorder)
AICARDI-GOUTIERES SYNDROME 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs515726141
rs515726141 		1.000 0.120 20 36904251 splice acceptor variant T/C snv 1.4E-05
CUI: C2749659
Disease: AICARDI-GOUTIERES SYNDROME 5 (disorder)
AICARDI-GOUTIERES SYNDROME 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs515726142
rs515726142 		1.000 0.120 20 36904156 splice donor variant C/A;T snv 1.6E-05
CUI: C2749659
Disease: AICARDI-GOUTIERES SYNDROME 5 (disorder)
AICARDI-GOUTIERES SYNDROME 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs515726143
rs515726143 		1.000 0.120 20 36897960 splice acceptor variant C/A;G snv 4.0E-06
CUI: C2749659
Disease: AICARDI-GOUTIERES SYNDROME 5 (disorder)
AICARDI-GOUTIERES SYNDROME 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs515726144
rs515726144 		1.000 0.120 20 36935168 inframe deletion GGATAGGATCAT/- delins
CUI: C2749659
Disease: AICARDI-GOUTIERES SYNDROME 5 (disorder)
AICARDI-GOUTIERES SYNDROME 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 0