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: 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: 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: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		Hemic and Lymphatic Diseases 0.700 1.000 1 2016 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: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1558653090
rs1558653090 		1.000 0.160 2 25235763 frameshift variant AT/- del
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 1 2014 2014
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: 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: rs201014116
rs201014116 		0.827 0.120 2 25278036 intron variant C/A snv 6.6E-03
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2016 2016
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: rs201014116
rs201014116 		0.827 0.120 2 25278036 intron variant C/A snv 6.6E-03
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue 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: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2014 2014
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: 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: rs377577594
rs377577594 		0.827 0.240 2 25234374 missense variant G/A;C;T snv 1.2E-04; 8.0E-06
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
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: rs1164367418
rs1164367418 		1.000 0.160 2 25244579 frameshift variant C/-;CC delins
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 0
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: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1553412022
rs1553412022 		1.000 0.160 2 25243967 frameshift variant A/-;AA delins
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 0
dbSNP: rs1553412485
rs1553412485 		1.000 0.160 2 25244573 missense variant T/C 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 0.700 0
dbSNP: rs1553412880
rs1553412880 		1.000 0.160 2 25245297 frameshift variant G/- delins
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 0
dbSNP: rs1553414406
rs1553414406 		1.000 0.160 2 25248157 frameshift variant A/- del
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 0
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: rs1558669964
rs1558669964 		1.000 0.160 2 25246656 frameshift variant G/- delins
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 0