NCAM1, neural cell adhesion molecule 1, 4684

N. diseases: 445; N. variants: 34
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: rs2298526
rs2298526
11 112981742 intron variant T/C snv 0.45
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs2303377
rs2303377
1.000 0.040 11 113240779 splice region variant T/C snv 0.44 0.36
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs646558
rs646558
1.000 0.040 11 113235185 intron variant C/A snv 0.22 0.29
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs1436109
rs1436109
1.000 0.080 11 113120896 intron variant G/T snv 8.5E-02
Diagnostic Techniques, Cardiovascular
0.700 1.000 1 2011 2011
dbSNP: rs1436109
rs1436109
1.000 0.080 11 113120896 intron variant G/T snv 8.5E-02
CUI: C0455825
Disease: Left ventricular mass
Left ventricular mass
0.700 1.000 1 2011 2011
dbSNP: rs1436109
rs1436109
1.000 0.080 11 113120896 intron variant G/T snv 8.5E-02
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1940700
rs1940700
11 113032833 intron variant A/T snv 1.3E-02
High density lipoprotein measurement
0.700 1.000 1 2012 2012
dbSNP: rs1940700
rs1940700
11 113032833 intron variant A/T snv 1.3E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs2155287
rs2155287
11 112976484 intron variant G/A snv 0.16
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs643830
rs643830
11 113235826 intron variant A/C snv 1.5E-02
High density lipoprotein measurement
0.700 1.000 1 2012 2012
dbSNP: rs643830
rs643830
11 113235826 intron variant A/C snv 1.5E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs4492854
rs4492854
1.000 0.080 11 113112812 intron variant C/T snv 0.57
CUI: C0019337
Disease: Heroin Dependence
Heroin Dependence
Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs2301228
rs2301228
1.000 0.040 11 112960736 non coding transcript exon variant A/G snv 8.9E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs4471463
rs4471463
1.000 11 113112873 intron variant C/T snv 0.57
CUI: C3160814
Disease: Cannabis use
Cannabis use
0.700 1.000 1 2016 2016
dbSNP: rs5794844
rs5794844
11 113089378 intron variant TT/-;T;TTT delins 0.54
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2017 2017
dbSNP: rs668204
rs668204
1.000 0.040 11 113278920 intron variant T/C snv 0.93
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1816537
rs1816537
11 113097929 intron variant A/C snv 0.50
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 3 2015 2018
dbSNP: rs10891483
rs10891483
11 112967156 intron variant C/G;T snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2018 2018
dbSNP: rs11214475
rs11214475
11 113073328 intron variant C/A;G;T snv
CUI: C0021704
Disease: Intelligence
Intelligence
Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs11214489
rs11214489
11 113105212 intron variant C/T snv 0.22
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs1273044
rs1273044
11 113123126 intron variant T/C;G snv 0.70
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs1940709
rs1940709
1.000 0.040 11 112978997 intron variant G/A snv 0.30
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs1940709
rs1940709
1.000 0.040 11 112978997 intron variant G/A snv 0.30
CUI: C0525045
Disease: Mood Disorders
Mood Disorders
Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs1940728
rs1940728
1.000 0.040 11 112981473 intron variant G/A;T snv 0.44
CUI: C0525045
Disease: Mood Disorders
Mood Disorders
Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs1940728
rs1940728
1.000 0.040 11 112981473 intron variant G/A;T snv 0.44
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.700 1.000 1 2018 2018