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: rs11938795
rs11938795 		0.882 0.120 4 122151854 upstream gene variant T/C snv 0.24
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs11938795
rs11938795 		0.882 0.120 4 122151854 upstream gene variant T/C snv 0.24
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs11938795
rs11938795 		0.882 0.120 4 122151854 upstream gene variant T/C snv 0.24
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2009 2009
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: rs138538714
rs138538714 		1.000 0.080 4 122194117 intron variant C/G;T snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
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: 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: 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: rs77087420
rs77087420 		1.000 0.040 4 122201701 intron variant A/G snv 3.4E-02
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs77087420
rs77087420 		1.000 0.040 4 122201701 intron variant A/G snv 3.4E-02
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs730882245
rs730882245 		0.827 0.160 4 122207168 stop gained T/A snv
CUI: C0032227
Disease: Pleural effusion disorder
Pleural effusion disorder 		Respiratory Tract Diseases 0.700 0
dbSNP: rs730882245
rs730882245 		0.827 0.160 4 122207168 stop gained T/A snv
CUI: C4693347
Disease: ALKURAYA-KUCINSKAS SYNDROME
ALKURAYA-KUCINSKAS SYNDROME 		0.700 0
dbSNP: rs730882245
rs730882245 		0.827 0.160 4 122207168 stop gained T/A snv
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		Nervous System Diseases 0.700 0
dbSNP: rs730882245
rs730882245 		0.827 0.160 4 122207168 stop gained T/A snv
CUI: C0025990
Disease: Micrognathism
Micrognathism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs730882245
rs730882245 		0.827 0.160 4 122207168 stop gained T/A snv
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs730882245
rs730882245 		0.827 0.160 4 122207168 stop gained T/A snv
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
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