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: rs1990760
rs1990760 		0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.900 0.955 22 2007 2018
dbSNP: rs376048533
rs376048533 		0.851 0.240 2 162272377 missense variant C/T snv 2.8E-05
CUI: C4225427
Disease: SINGLETON-MERTEN SYNDROME 1
SINGLETON-MERTEN SYNDROME 1 		0.800 1.000 2 2015 2017
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: rs1990760
rs1990760 		0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.780 1.000 10 2009 2018
dbSNP: rs1990760
rs1990760 		0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.730 1.000 4 2009 2020
dbSNP: rs35667974
rs35667974 		0.776 0.280 2 162268127 missense variant T/C snv 1.1E-02 1.2E-02
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.720 1.000 3 2010 2015
dbSNP: rs3747517
rs3747517 		0.732 0.360 2 162272314 missense variant T/C snv 0.68 0.68
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.710 1.000 3 2012 2016
dbSNP: rs1990760
rs1990760 		0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.710 1.000 2 2012 2015
dbSNP: rs1990760
rs1990760 		0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C4049006
Disease: Selective immunoglobulin A deficiency
Selective immunoglobulin A deficiency 		0.710 1.000 2 2010 2016
dbSNP: rs35667974
rs35667974 		0.776 0.280 2 162268127 missense variant T/C snv 1.1E-02 1.2E-02
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.710 1.000 2 2010 2016
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: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2020 2020
dbSNP: rs1559810905
rs1559810905 		0.827 0.240 2 162273810 missense variant T/A snv
CUI: C0002871
Disease: Anemia
Anemia 		Hemic and Lymphatic Diseases 0.700 1.000 1 2020 2020
dbSNP: rs1559810905
rs1559810905 		0.827 0.240 2 162273810 missense variant T/A snv
CUI: C0751740
Disease: Lenticulostriate Vasculopathy
Lenticulostriate Vasculopathy 		Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2020 2020
dbSNP: rs1559810905
rs1559810905 		0.827 0.240 2 162273810 missense variant T/A snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 1.000 1 2020 2020
dbSNP: rs1559810905
rs1559810905 		0.827 0.240 2 162273810 missense variant T/A snv
CUI: C0151526
Disease: Premature Birth
Premature Birth 		Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2020 2020
dbSNP: rs1559810905
rs1559810905 		0.827 0.240 2 162273810 missense variant T/A snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		Respiratory Tract Diseases; Cardiovascular Diseases 0.700 1.000 1 2020 2020
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