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: rs2158257
rs2158257 		1.000 0.080 17 46026977 3 prime UTR variant A/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: rs2158257
rs2158257 		1.000 0.080 17 46026977 3 prime UTR variant A/C snv 0.14
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs17574228
rs17574228 		0.925 0.120 17 46027143 3 prime UTR 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: rs17574228
rs17574228 		0.925 0.120 17 46027143 3 prime UTR 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: rs17574228
rs17574228 		0.925 0.120 17 46027143 3 prime UTR variant T/C snv 0.14
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs7521
rs7521 		0.925 0.080 17 46028029 3 prime UTR variant A/C;G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs7521
rs7521 		0.925 0.080 17 46028029 3 prime UTR variant A/C;G snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs7521
rs7521 		0.925 0.080 17 46028029 3 prime UTR variant A/C;G snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs7350928
rs7350928 		17 46030734 3 prime UTR variant C/G;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs17574361
rs17574361 		1.000 0.040 17 46030836 3 prime UTR 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: rs17574361
rs17574361 		1.000 0.040 17 46030836 3 prime UTR variant A/G snv 0.14
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs17652961
rs17652961 		17 46030989 3 prime UTR 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: rs34579536
rs34579536 		1.000 0.080 17 46031540 missense variant A/G snv 0.14 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: rs797045049
rs797045049 		1.000 0.200 17 46031669 frameshift variant A/- del
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 2016 2016
dbSNP: rs17574425
rs17574425 		17 46031822 non coding transcript exon variant C/G;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1568366050
rs1568366050 		1.000 0.200 17 46032198 frameshift variant AA/- delins
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: rs1076222
rs1076222 		1.000 0.080 17 46032403 non coding transcript exon variant C/G;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1076222
rs1076222 		1.000 0.080 17 46032403 non coding transcript exon variant C/G;T 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: rs7350980
rs7350980 		17 46032905 intron variant G/A snv 0.23
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs281865471
rs281865471 		1.000 0.200 17 46033131 frameshift variant TC/- delins
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: rs36076725
rs36076725 		1.000 0.080 17 46033166 missense variant G/A;C;T 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: rs35833914
rs35833914 		1.000 0.080 17 46033175 missense variant G/A;C;T snv 0.14; 4.4E-06
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: rs4597358
rs4597358 		17 46033304 intron variant C/G snv 0.23
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs17574604
rs17574604 		0.925 0.120 17 46034247 synonymous variant A/G snv 0.15 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: rs17574604
rs17574604 		0.925 0.120 17 46034247 synonymous variant A/G snv 0.15 0.14
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012