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: 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: 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
dbSNP: rs12999687
rs12999687 		2 25289569 intron variant T/G snv 0.48
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index 		0.700 1.000 1 2012 2012
dbSNP: rs7578575
rs7578575 		2 25265950 intron variant T/A snv 0.27
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs7578575
rs7578575 		2 25265950 intron variant T/A snv 0.27
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2016 2016
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: rs1456725200
rs1456725200 		1.000 0.040 2 25246661 missense variant C/A;T snv
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
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: 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: rs2304429
rs2304429 		1.000 0.040 2 25235677 intron variant C/T snv 0.51 0.45
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2019 2019
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
dbSNP: rs758881009
rs758881009 		1.000 0.040 2 25247628 missense variant C/A;T snv 8.0E-06; 2.4E-05
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1558650888
rs1558650888 		0.925 0.040 2 25234308 missense variant G/A snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.700 0
dbSNP: rs1558650888
rs1558650888 		0.925 0.040 2 25234308 missense variant G/A snv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.700 0
dbSNP: rs11695471
rs11695471 		0.925 0.080 2 25234839 intron variant T/A;C snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs11695471
rs11695471 		0.925 0.080 2 25234839 intron variant T/A;C snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs11887120
rs11887120 		0.882 0.080 2 25262866 intron variant C/T snv 0.45
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		Mental Disorders 0.010 < 0.001 1 2016 2016
dbSNP: rs11887120
rs11887120 		0.882 0.080 2 25262866 intron variant C/T snv 0.45
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 < 0.001 1 2016 2016