Source: ALL

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: rs1990760
rs1990760
IFIH1
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 		0.900 0.955 22 2007 2018
dbSNP: rs1990760
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.780 1.000 10 2009 2018
dbSNP: rs1990760
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.730 1.000 4 2009 2020
dbSNP: rs1990760
rs1990760
IFIH1
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: rs1990760
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.710 1.000 2 2012 2015
dbSNP: rs1990760
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs1990760
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2011 2011
dbSNP: rs1990760
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C0202202
Disease: Protein measurement
Protein measurement 		0.700 1.000 1 2010 2010
dbSNP: rs1990760
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.700 1.000 1 2015 2015
dbSNP: rs1990760
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C0202083
Disease: Immunoglobulin A measurement
Immunoglobulin A measurement 		0.700 1.000 1 2010 2010
dbSNP: rs1990760
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.050 0.800 5 2007 2020
dbSNP: rs1990760
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.040 1.000 4 2007 2017
dbSNP: rs1990760
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C0014378
Disease: Enterovirus Infections
Enterovirus Infections 		0.030 0.667 3 2011 2016
dbSNP: rs1990760
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C0271737
Disease: Addison's disease due to autoimmunity
Addison's disease due to autoimmunity 		0.020 0.500 2 2013 2013
dbSNP: rs1990760
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C2103602
Disease: Autoimmune Primary Adrenal Insufficiency
Autoimmune Primary Adrenal Insufficiency 		0.020 0.500 2 2013 2013
dbSNP: rs1990760
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.020 < 0.001 2 2007 2013
dbSNP: rs1990760
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C0205734
Disease: Diabetes, Autoimmune
Diabetes, Autoimmune 		0.010 1.000 1 2016 2016
dbSNP: rs1990760
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C0275518
Disease: Acute infectious disease
Acute infectious disease 		0.010 1.000 1 2016 2016
dbSNP: rs1990760
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C0085655
Disease: Polymyositis
Polymyositis 		0.010 1.000 1 2010 2010
dbSNP: rs1990760
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		0.010 1.000 1 2010 2010
dbSNP: rs1990760
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.010 1.000 1 2014 2014
dbSNP: rs1990760
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C0004096
Disease: Asthma
Asthma 		0.010 1.000 1 2018 2018
dbSNP: rs1990760
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 1.000 1 2016 2016
dbSNP: rs1990760
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		0.010 1.000 1 2010 2010
dbSNP: rs1990760
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.010 < 0.001 1 2019 2019