PADI4, peptidyl arginine deiminase 4, 23569

N. diseases: 196; N. variants: 20
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: rs2240335
rs2240335 		1.000 0.120 1 17348042 synonymous variant C/A snv 0.39 0.37
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.810 1.000 3 2011 2019
dbSNP: rs2301888
rs2301888 		1.000 0.120 1 17346235 intron variant G/A snv 0.31
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.800 1.000 3 2014 2019
dbSNP: rs2240336
rs2240336 		1.000 0.120 1 17347907 intron variant C/T snv 0.43 0.45
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs2240339
rs2240339 		1.000 0.120 1 17347613 intron variant C/T snv 0.36
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs2240340
rs2240340 		1.000 0.120 1 17336144 intron variant T/C snv 0.56 0.54
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.770 1.000 7 2008 2017
dbSNP: rs11203366
rs11203366 		0.925 0.200 1 17331039 missense variant G/A snv 0.56 0.55
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.720 1.000 3 2007 2017
dbSNP: rs11203368
rs11203368 		0.925 0.200 1 17340013 intron variant C/T snv 0.57
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1748033
rs1748033 		0.925 0.120 1 17336167 missense variant T/C;G snv 0.63; 4.0E-06
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.030 1.000 3 2014 2018
dbSNP: rs11203367
rs11203367 		1.000 0.120 1 17331121 missense variant T/C snv 0.56 0.56
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.020 1.000 2 2007 2017
dbSNP: rs874881
rs874881 		1.000 0.120 1 17334004 missense variant G/C;T snv 0.55; 1.2E-05
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.020 1.000 2 2007 2017
dbSNP: rs10437048
rs10437048 		1.000 0.080 1 17356224 intron variant A/C snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs11203366
rs11203366 		0.925 0.200 1 17331039 missense variant G/A snv 0.56 0.55
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs11203368
rs11203368 		0.925 0.200 1 17340013 intron variant C/T snv 0.57
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs11203368
rs11203368 		0.925 0.200 1 17340013 intron variant C/T snv 0.57
CUI: C0024143
Disease: Lupus Nephritis
Lupus Nephritis 		Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1635564
rs1635564 		0.925 0.160 1 17357031 intron variant T/A;G snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1635564
rs1635564 		0.925 0.160 1 17357031 intron variant T/A;G snv
CUI: C0024143
Disease: Lupus Nephritis
Lupus Nephritis 		Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1635566
rs1635566 		1.000 0.080 1 17356662 intron variant A/G snv 0.70
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1748033
rs1748033 		0.925 0.120 1 17336167 missense variant T/C;G snv 0.63; 4.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1886302
rs1886302 		1.000 0.080 1 17308901 intron variant A/G snv 0.36
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs2240337
rs2240337 		0.925 0.200 1 17347727 intron variant C/T snv 9.5E-02
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2240337
rs2240337 		0.925 0.200 1 17347727 intron variant C/T snv 9.5E-02
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs2477134
rs2477134 		1.000 0.080 1 17307077 upstream gene variant G/A;T snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs2501796
rs2501796 		1.000 0.080 1 17307027 upstream gene variant G/A;C snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs41265997
rs41265997 		1.000 0.080 1 17342111 missense variant C/G;T snv 4.0E-06; 1.6E-05
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs6698443
rs6698443 		0.925 0.080 1 17332069 intron variant C/A;T snv 5.2E-02
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015