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: rs9915547
rs9915547 		17 46135416 intron variant T/C snv 0.24
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs9904766
rs9904766 		17 46109586 intron variant T/C;G snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs974293
rs974293 		17 46072867 intron 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: rs9674888
rs9674888 		17 46146906 intron variant G/A snv 0.53
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs9303525
rs9303525 		17 46109891 intron variant A/G snv 0.23
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs876944
rs876944 		17 46057025 intron variant G/A;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs8080583
rs8080583 		17 46085231 intron variant C/A snv 0.23
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs8080583
rs8080583 		17 46085231 intron variant C/A snv 0.23
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs8077487
rs8077487 		17 46038074 non coding transcript exon variant T/C snv 0.23
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs8070942
rs8070942 		1.000 0.080 17 46131308 intron variant G/T snv 0.23
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: rs8070942
rs8070942 		1.000 0.080 17 46131308 intron variant G/T snv 0.23
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs8070420
rs8070420 		17 46108113 intron variant G/A;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs79923630
rs79923630 		1.000 0.080 17 46090295 intron variant G/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: 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: rs78746179
rs78746179 		17 46127240 intron variant C/T snv 5.0E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs78746179
rs78746179 		17 46127240 intron variant C/T snv 5.0E-02
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs776509440
rs776509440 		17 46096136 intron variant -/CTT;CTTT;CTTTT;CTTTTT;CTTTTTT;CTTTTTTT;CTTTTTTTT;CTTTTTTTTTT;CTTTTTTTTTTTTTTT delins
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs776509440
rs776509440 		17 46096136 intron variant -/CTT;CTTT;CTTTT;CTTTTT;CTTTTTT;CTTTTTTT;CTTTTTTTT;CTTTTTTTTTT;CTTTTTTTTTTTTTTT delins
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
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: 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: 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: rs7225002
rs7225002 		0.925 0.080 17 46111701 intron variant A/G snv 0.39
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.700 1.000 3 2009 2012
dbSNP: rs7225002
rs7225002 		0.925 0.080 17 46111701 intron variant A/G snv 0.39
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		Mental Disorders 0.700 1.000 1 2018 2018