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: 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: 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: 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: 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: 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: rs45510091
rs45510091 		1.000 0.040 4 122265238 intron variant A/G snv 3.3E-02
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs7657746
rs7657746 		0.925 0.040 4 122240464 intron variant A/G snv 0.24
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs7657746
rs7657746 		0.925 0.040 4 122240464 intron variant A/G snv 0.24
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2015 2015
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: 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: 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