KIAA1109, KIAA1109, 84162

N. diseases: 86; N. variants: 30
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: rs1127348
rs1127348 		4 122359705 synonymous variant T/C snv 0.19 0.17
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs4288027
rs4288027 		4 122262050 intron variant A/C;G snv 0.13
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs4288027
rs4288027 		4 122262050 intron variant A/C;G snv 0.13
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs4374642
rs4374642 		4 122179956 intron variant T/C snv 0.13
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs4374642
rs4374642 		4 122179956 intron variant T/C snv 0.13
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs45515895
rs45515895 		4 122263672 intron variant G/A snv 0.16
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs45609335
rs45609335 		4 122265396 intron variant G/C snv 3.0E-02
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs7678445
rs7678445 		4 122361617 intron variant G/A;T snv
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs7678445
rs7678445 		4 122361617 intron variant G/A;T snv
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs7693745
rs7693745 		4 122314428 intron variant A/G snv 0.20
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs4505848
rs4505848 		0.776 0.400 4 122211337 intron variant A/G snv 0.29
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.020 1.000 2 2009 2020
dbSNP: rs4505848
rs4505848 		0.776 0.400 4 122211337 intron variant A/G snv 0.29
CUI: C0042167
Disease: Uveitis, Posterior
Uveitis, Posterior 		Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4505848
rs4505848 		0.776 0.400 4 122211337 intron variant A/G snv 0.29
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4505848
rs4505848 		0.776 0.400 4 122211337 intron variant A/G snv 0.29
CUI: C0701807
Disease: Acute anterior uveitis
Acute anterior uveitis 		Eye Diseases 0.010 1.000 1 2011 2011
dbSNP: rs4505848
rs4505848 		0.776 0.400 4 122211337 intron variant A/G snv 0.29
CUI: C0042164
Disease: Uveitis
Uveitis 		Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4505848
rs4505848 		0.776 0.400 4 122211337 intron variant A/G snv 0.29
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs4505848
rs4505848 		0.776 0.400 4 122211337 intron variant A/G snv 0.29
CUI: C0042165
Disease: Anterior uveitis
Anterior uveitis 		Eye Diseases 0.010 1.000 1 2011 2011
dbSNP: rs4505848
rs4505848 		0.776 0.400 4 122211337 intron variant A/G snv 0.29
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.800 1.000 1 2009 2009
dbSNP: rs13119723
rs13119723 		0.807 0.280 4 122297158 intron variant A/G snv 0.10
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.020 1.000 2 2009 2009
dbSNP: rs13119723
rs13119723 		0.807 0.280 4 122297158 intron variant A/G snv 0.10
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis 		Digestive System Diseases 0.710 1.000 2 2011 2012
dbSNP: rs13119723
rs13119723 		0.807 0.280 4 122297158 intron variant A/G snv 0.10
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.710 1.000 2 2007 2008
dbSNP: rs13119723
rs13119723 		0.807 0.280 4 122297158 intron variant A/G snv 0.10
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.800 1.000 1 2010 2010
dbSNP: rs13119723
rs13119723 		0.807 0.280 4 122297158 intron variant A/G snv 0.10
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs13119723
rs13119723 		0.807 0.280 4 122297158 intron variant A/G snv 0.10
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs13119723
rs13119723 		0.807 0.280 4 122297158 intron variant A/G snv 0.10
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2010 2010