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: rs775516790
rs775516790 		1.000 4 122238125 frameshift variant A/- delins 4.0E-06 7.0E-06
CUI: C4693347
Disease: ALKURAYA-KUCINSKAS SYNDROME
ALKURAYA-KUCINSKAS SYNDROME 		0.700 0
dbSNP: rs62321692
rs62321692 		1.000 0.080 4 122340375 intron variant A/C snv 5.1E-02
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 1 2016 2016
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: rs13151961
rs13151961 		0.827 0.200 4 122194347 intron variant A/G snv 0.11
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 3 2007 2014
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: rs13151961
rs13151961 		0.827 0.200 4 122194347 intron variant A/G snv 0.11
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.710 1.000 2 2010 2011
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: rs7657746
rs7657746 		0.925 0.040 4 122240464 intron variant A/G snv 0.24
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.800 1.000 2 2012 2015
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
dbSNP: rs13119723
rs13119723 		0.807 0.280 4 122297158 intron variant A/G snv 0.10
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs13151961
rs13151961 		0.827 0.200 4 122194347 intron variant A/G snv 0.11
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs13151961
rs13151961 		0.827 0.200 4 122194347 intron variant A/G snv 0.11
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs13151961
rs13151961 		0.827 0.200 4 122194347 intron variant A/G snv 0.11
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs13151961
rs13151961 		0.827 0.200 4 122194347 intron variant A/G snv 0.11
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs13151961
rs13151961 		0.827 0.200 4 122194347 intron variant A/G snv 0.11
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous 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: 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