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: rs1051597475
rs1051597475 		1.000 4 122226815 missense variant C/T snv
CUI: C4693347
Disease: ALKURAYA-KUCINSKAS SYNDROME
ALKURAYA-KUCINSKAS SYNDROME 		0.800 0
dbSNP: rs1263871665
rs1263871665 		1.000 4 122250524 missense variant G/A snv 1.2E-05
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: 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: rs770791100
rs770791100 		1.000 4 122239668 missense variant A/G snv 3.2E-05 5.6E-05
CUI: C4693347
Disease: ALKURAYA-KUCINSKAS SYNDROME
ALKURAYA-KUCINSKAS SYNDROME 		0.800 0
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: 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: rs1554025656
rs1554025656 		1.000 4 122249571 missense variant G/A snv
CUI: C4693347
Disease: ALKURAYA-KUCINSKAS SYNDROME
ALKURAYA-KUCINSKAS SYNDROME 		0.800 1.000 2 2015 2018
dbSNP: rs1554059454
rs1554059454 		1.000 4 122309365 missense variant G/C snv
CUI: C4693347
Disease: ALKURAYA-KUCINSKAS SYNDROME
ALKURAYA-KUCINSKAS SYNDROME 		0.800 1.000 2 2015 2018
dbSNP: rs368227278
rs368227278 		1.000 4 122243045 missense variant G/A;C snv 1.6E-05; 4.0E-06
CUI: C4693347
Disease: ALKURAYA-KUCINSKAS SYNDROME
ALKURAYA-KUCINSKAS SYNDROME 		0.700 1.000 2 2015 2018
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: rs45613035
rs45613035 		0.925 0.120 4 122219915 intron variant T/C snv 6.5E-02
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 2 2019 2019
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: 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: rs11734090
rs11734090 		1.000 0.080 4 122306958 intron variant T/C snv 0.25
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: 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