DNMT3A, DNA methyltransferase 3 alpha, 1788

N. diseases: 350; N. variants: 56
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: rs757823678
rs757823678 		1.000 0.160 2 25240312 missense variant C/A;T snv 4.0E-06
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.810 1.000 4 2014 2019
dbSNP: rs147001633
rs147001633 		0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.800 1.000 21 2010 2019
dbSNP: rs587777507
rs587777507 		1.000 0.160 2 25241701 missense variant A/G snv
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 3 2014 2017
dbSNP: rs587777508
rs587777508 		1.000 0.160 2 25247676 missense variant A/T snv
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 3 2014 2017
dbSNP: rs587777509
rs587777509 		1.000 0.160 2 25244564 missense variant A/T snv
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 3 2014 2017
dbSNP: rs587777510
rs587777510 		1.000 0.160 2 25234313 missense variant A/G snv 4.0E-06
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 3 2014 2017
dbSNP: rs13428812
rs13428812 		0.827 0.120 2 25269598 intron variant A/G snv 0.31
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.800 1.000 1 2010 2010
dbSNP: rs377577594
rs377577594 		0.827 0.240 2 25234374 missense variant G/A;C;T snv 1.2E-04; 8.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.710 1.000 9 2010 2016
dbSNP: rs147001633
rs147001633 		0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.710 1.000 1 2017 2017
dbSNP: rs147001633
rs147001633 		0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 36 1989 2018
dbSNP: rs147001633
rs147001633 		0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 36 1989 2018
dbSNP: rs147001633
rs147001633 		0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 36 1989 2018
dbSNP: rs757823678
rs757823678 		1.000 0.160 2 25240312 missense variant C/A;T snv 4.0E-06
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 36 1989 2018
dbSNP: rs781139634
rs781139634 		2 25235768 stop gained G/A snv 7.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 36 1989 2018
dbSNP: rs781139634
rs781139634 		2 25235768 stop gained G/A snv 7.0E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 36 1989 2018
dbSNP: rs144062658
rs144062658 		1.000 0.160 2 25247079 missense variant T/C snv 4.0E-06
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 3 2014 2017
dbSNP: rs149095705
rs149095705 		1.000 0.160 2 25234307 missense variant G/A;C;T snv 3.6E-05; 4.0E-06; 4.0E-06
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 3 2014 2017
dbSNP: rs754613602
rs754613602 		1.000 0.160 2 25240379 missense variant G/A;C snv 1.6E-05; 4.0E-06
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 3 2014 2017
dbSNP: rs11694842
rs11694842 		2 25260101 intron variant A/G snv 0.22
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2015 2019
dbSNP: rs13427672
rs13427672 		2 25250442 intron variant G/A snv 0.43
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2017 2019
dbSNP: rs11694842
rs11694842 		2 25260101 intron variant A/G snv 0.22
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs12991495
rs12991495 		2 25263901 intron variant T/C snv 0.22
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs12991495
rs12991495 		2 25263901 intron variant T/C snv 0.22
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs12991495
rs12991495 		2 25263901 intron variant T/C snv 0.22
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs12999687
rs12999687 		2 25289569 intron variant T/G snv 0.48
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		0.700 1.000 1 2012 2012