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: 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: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		Neoplasms 0.030 1.000 3 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: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs377577594
rs377577594 		0.827 0.240 2 25234374 missense variant G/A;C;T snv 1.2E-04; 8.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs752626029
rs752626029 		0.925 0.120 2 25239208 missense variant G/A;C;T snv 4.0E-06; 1.2E-05; 4.0E-06
CUI: C0023493
Disease: Adult T-Cell Lymphoma/Leukemia
Adult T-Cell Lymphoma/Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1550117
rs1550117 		0.790 0.320 2 25343038 upstream gene variant A/G;T snv
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs11887120
rs11887120 		0.882 0.080 2 25262866 intron variant C/T snv 0.45
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2016 2016
dbSNP: rs201014116
rs201014116 		0.827 0.120 2 25278036 intron variant C/A snv 6.6E-03
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2289195
rs2289195 		1.000 0.040 2 25240614 intron variant G/A snv 0.41 0.41
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs766858016
rs766858016 		0.882 0.200 2 25247710 stop gained T/A;G snv 4.0E-06
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.700 0
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: rs2289195
rs2289195 		1.000 0.040 2 25240614 intron variant G/A snv 0.41 0.41
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2014 2014
dbSNP: rs79478703
rs79478703 		2 25235984 intron variant A/G snv 4.8E-02
CUI: C0005890
Disease: Body Height
Body Height 		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
dbSNP: rs13428812
rs13428812 		0.827 0.120 2 25269598 intron variant A/G snv 0.31
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 < 0.001 1 2019 2019
dbSNP: rs1550117
rs1550117 		0.790 0.320 2 25343038 upstream gene variant A/G;T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs201014116
rs201014116 		0.827 0.120 2 25278036 intron variant C/A snv 6.6E-03
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1550117
rs1550117 		0.790 0.320 2 25343038 upstream gene variant A/G;T snv
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs34048824
rs34048824 		1.000 0.120 2 25312674 intron variant T/C snv 0.42
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
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: rs201014116
rs201014116 		0.827 0.120 2 25278036 intron variant C/A snv 6.6E-03
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs766858016
rs766858016 		0.882 0.200 2 25247710 stop gained T/A;G snv 4.0E-06
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs777500092
rs777500092 		1.000 0.120 2 25246231 missense variant G/A snv 8.0E-06
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 36 1989 2018
dbSNP: rs34655300
rs34655300 		1.000 0.040 2 25291464 intron variant C/T snv 0.40
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019