DNASE1, deoxyribonuclease 1, 1773

N. diseases: 180; N. variants: 8
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: rs1053874
rs1053874 		0.851 0.240 16 3657746 missense variant G/A;T snv 0.36; 4.0E-06
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2018 2018
dbSNP: rs7203664
rs7203664 		16 3678707 intron variant T/C snv 0.68
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs8176919
rs8176919 		16 3656696 missense variant G/A snv 7.4E-03 2.1E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9928274
rs9928274 		16 3651823 5 prime UTR variant T/C snv 2.7E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1053874
rs1053874 		0.851 0.240 16 3657746 missense variant G/A;T snv 0.36; 4.0E-06
CUI: C3862275
Disease: SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO
SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs121912990
rs121912990 		16 3655386 stop gained A/T snv
CUI: C3862275
Disease: SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO
SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1053874
rs1053874 		0.851 0.240 16 3657746 missense variant G/A;T snv 0.36; 4.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.030 0.667 3 2004 2013
dbSNP: rs1053874
rs1053874 		0.851 0.240 16 3657746 missense variant G/A;T snv 0.36; 4.0E-06
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1053874
rs1053874 		0.851 0.240 16 3657746 missense variant G/A;T snv 0.36; 4.0E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1053874
rs1053874 		0.851 0.240 16 3657746 missense variant G/A;T snv 0.36; 4.0E-06
CUI: C0027697
Disease: Nephritis
Nephritis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1053874
rs1053874 		0.851 0.240 16 3657746 missense variant G/A;T snv 0.36; 4.0E-06
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3751842
rs3751842 		1.000 0.040 16 3664610 3 prime UTR variant C/G;T snv
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer 		Stomatognathic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3751842
rs3751842 		1.000 0.040 16 3664610 3 prime UTR variant C/G;T snv
CUI: C0018939
Disease: Hematological Disease
Hematological Disease 		Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs8176928
rs8176928 		16 3656184 missense variant A/G snv 1.0E-03 4.0E-03
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs977605156
rs977605156 		0.925 0.080 16 3656127 missense variant G/A snv 7.0E-06
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.010 1.000 1 2015 2015
dbSNP: rs977605156
rs977605156 		0.925 0.080 16 3656127 missense variant G/A snv 7.0E-06
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.010 1.000 1 2015 2015
dbSNP: rs977605156
rs977605156 		0.925 0.080 16 3656127 missense variant G/A snv 7.0E-06
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.010 1.000 1 2015 2015