NBEAL1, neurobeachin like 1, 65065

N. diseases: 60; N. variants: 24
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: rs72934535
rs72934535 		1.000 0.040 2 203104250 intron variant T/C snv 7.2E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 2 2018 2018
dbSNP: rs10439267
rs10439267 		2 203058724 intron variant C/T snv 0.40
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		0.700 1.000 1 2011 2011
dbSNP: rs10497870
rs10497870 		2 203105560 intron variant A/C;G snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs10497870
rs10497870 		2 203105560 intron variant A/C;G snv
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		0.700 1.000 1 2011 2011
dbSNP: rs115654617
rs115654617 		1.000 0.040 2 203029276 intron variant C/A snv 9.3E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs11675464
rs11675464 		2 203189019 intron variant A/G snv 0.43
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		0.700 1.000 1 2011 2011
dbSNP: rs11690927
rs11690927 		2 203079305 intron variant A/G snv 0.44
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		0.700 1.000 1 2011 2011
dbSNP: rs12693982
rs12693982 		2 203220912 intron variant C/T snv 0.38
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs12693982
rs12693982 		2 203220912 intron variant C/T snv 0.38
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		0.700 1.000 1 2011 2011
dbSNP: rs12693982
rs12693982 		2 203220912 intron variant C/T snv 0.38
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs13396160
rs13396160 		2 203049219 intron variant C/T snv 0.40
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		0.700 1.000 1 2011 2011
dbSNP: rs1545885
rs1545885 		2 203097307 intron variant A/G;T snv
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		0.700 1.000 1 2011 2011
dbSNP: rs16839626
rs16839626 		2 203225007 intron variant G/A snv 2.1E-02
CUI: C0162701
Disease: Polysomnography
Polysomnography 		0.700 1.000 1 2012 2012
dbSNP: rs17408550
rs17408550 		2 203133613 intron variant C/G;T snv
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		0.700 1.000 1 2011 2011
dbSNP: rs17473735
rs17473735 		2 203097423 intron variant T/C snv 0.44
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		0.700 1.000 1 2011 2011
dbSNP: rs17474056
rs17474056 		2 203122831 intron variant C/T snv 0.46
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		0.700 1.000 1 2011 2011
dbSNP: rs1947983
rs1947983 		2 203017870 intron variant A/C;G snv
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		0.700 1.000 1 2011 2011
dbSNP: rs2043448
rs2043448 		2 203181803 non coding transcript exon variant A/G snv 0.44
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		0.700 1.000 1 2011 2011
dbSNP: rs4675317
rs4675317 		0.925 0.040 2 203169128 intron variant A/G snv 4.8E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs4675317
rs4675317 		0.925 0.040 2 203169128 intron variant A/G snv 4.8E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs6704959
rs6704959 		2 203223799 intron variant G/A snv 0.44
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		0.700 1.000 1 2011 2011
dbSNP: rs6714802
rs6714802 		2 203197606 intron variant T/C snv 0.44
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		0.700 1.000 1 2011 2011
dbSNP: rs6715752
rs6715752 		2 203048829 intron variant A/C;G;T snv
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		0.700 1.000 1 2011 2011
dbSNP: rs6751448
rs6751448 		2 203141914 intron variant T/G snv 0.47
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		0.700 1.000 1 2011 2011
dbSNP: rs7564679
rs7564679 		2 203148067 intron variant A/G snv 0.47
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		0.700 1.000 1 2011 2011