KANSL1, KAT8 regulatory NSL complex subunit 1, 284058

N. diseases: 140; N. variants: 332
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: rs12150447
rs12150447 		1.000 0.080 17 46050759 intron variant A/C;G snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs12150542
rs12150542 		17 46038364 non coding transcript exon variant G/A snv 0.14
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs12185225
rs12185225 		1.000 0.080 17 46036125 intron variant T/C snv 0.14
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs12185243
rs12185243 		17 46037985 non coding transcript exon variant T/C snv 0.14
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1427624649
rs1427624649 		0.925 0.200 17 46171102 stop gained G/A;C snv 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 5 2012 2016
dbSNP: rs1427624649
rs1427624649 		0.925 0.200 17 46171102 stop gained G/A;C snv 7.0E-06
CUI: C1864871
Disease: Chromosome 17q21.31 Deletion Syndrome
Chromosome 17q21.31 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs142920272
rs142920272 		17 46224474 intron variant T/A;C snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs1468241
rs1468241 		17 46118787 intron variant A/G snv 0.14
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1476554
rs1476554 		17 46081736 intron variant C/T snv 0.14
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs148910659
rs148910659 		17 46055293 intron variant G/A snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2018 2018
dbSNP: rs148910659
rs148910659 		17 46055293 intron variant G/A snv
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2018 2018
dbSNP: rs148910659
rs148910659 		17 46055293 intron variant G/A snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2018 2018
dbSNP: rs149830411
rs149830411 		0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs149830411
rs149830411 		0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs149830411
rs149830411 		0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		0.700 0
dbSNP: rs149830411
rs149830411 		0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs149830411
rs149830411 		0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet 		Musculoskeletal Diseases 0.700 0
dbSNP: rs149830411
rs149830411 		0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs149830411
rs149830411 		0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs149830411
rs149830411 		0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs149830411
rs149830411 		0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C0009806
Disease: Constipation
Constipation 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs149830411
rs149830411 		0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C1864871
Disease: Chromosome 17q21.31 Deletion Syndrome
Chromosome 17q21.31 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs149830411
rs149830411 		0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		Digestive System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs149830411
rs149830411 		0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs149830411
rs149830411 		0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0