AANAT, aralkylamine N-acetyltransferase, 15

N. diseases: 36; N. variants: 8
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: rs138415131
rs138415131 		17 76465633 intron variant A/C;T snv
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs3760137
rs3760137 		17 76465495 intron variant T/C snv 0.39
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs386386678
rs386386678 		17 76464800 intron variant T/-;TT;TTT;TTTT;TTTTT;TTTTTTTTTT;TTTTTTTTTTTTT delins
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs28936679
rs28936679 		1.000 0.120 17 76469731 missense variant G/A snv 2.3E-03 7.0E-04
CUI: C0393770
Disease: Delayed Sleep Phase Syndrome
Delayed Sleep Phase Syndrome 		Nervous System Diseases; Mental Disorders; Occupational Diseases 0.010 1.000 1 2003 2003
dbSNP: rs3760138
rs3760138 		0.807 0.160 17 76467027 intron variant G/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3760138
rs3760138 		0.807 0.160 17 76467027 intron variant G/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3760138
rs3760138 		0.807 0.160 17 76467027 intron variant G/A;T snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs3760138
rs3760138 		0.807 0.160 17 76467027 intron variant G/A;T snv
CUI: C4317046
Disease: Hematological abnormality
Hematological abnormality 		0.010 1.000 1 2019 2019
dbSNP: rs3760138
rs3760138 		0.807 0.160 17 76467027 intron variant G/A;T snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3760138
rs3760138 		0.807 0.160 17 76467027 intron variant G/A;T snv
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs4238989
rs4238989 		0.851 0.120 17 76467306 intron variant C/G snv 0.45
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs4238989
rs4238989 		0.851 0.120 17 76467306 intron variant C/G snv 0.45
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs4238989
rs4238989 		0.851 0.120 17 76467306 intron variant C/G snv 0.45
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs4238989
rs4238989 		0.851 0.120 17 76467306 intron variant C/G snv 0.45
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs773528016
rs773528016 		1.000 0.120 17 76469830 missense variant G/A snv 1.3E-05
CUI: C0393770
Disease: Delayed Sleep Phase Syndrome
Delayed Sleep Phase Syndrome 		Nervous System Diseases; Mental Disorders; Occupational Diseases 0.010 1.000 1 2007 2007
dbSNP: rs8150
rs8150 		0.807 0.160 17 76470935 3 prime UTR variant G/A;C snv
CUI: C4317046
Disease: Hematological abnormality
Hematological abnormality 		0.010 1.000 1 2019 2019
dbSNP: rs8150
rs8150 		0.807 0.160 17 76470935 3 prime UTR variant G/A;C snv
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs8150
rs8150 		0.807 0.160 17 76470935 3 prime UTR variant G/A;C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs8150
rs8150 		0.807 0.160 17 76470935 3 prime UTR variant G/A;C snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs8150
rs8150 		0.807 0.160 17 76470935 3 prime UTR variant G/A;C snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs8150
rs8150 		0.807 0.160 17 76470935 3 prime UTR variant G/A;C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014