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: 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
dbSNP: rs1558671136
rs1558671136 		1.000 0.160 2 25247104 frameshift variant CTGGTGGAAC/- 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: rs377577594
rs377577594 		0.827 0.240 2 25234374 missense variant G/A;C;T snv 1.2E-04; 8.0E-06
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs377577594
rs377577594 		0.827 0.240 2 25234374 missense variant G/A;C;T snv 1.2E-04; 8.0E-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 0
dbSNP: rs587777506
rs587777506 		1.000 0.160 2 25247714 inframe deletion CAC/- 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: rs750325978
rs750325978 		1.000 0.160 2 25240727 stop gained G/A snv 7.0E-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 0
dbSNP: rs759380437
rs759380437 		0.925 0.200 2 25247685 missense variant G/A;C;T snv 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 0
dbSNP: rs759380437
rs759380437 		0.925 0.200 2 25247685 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 0
dbSNP: rs761064473
rs761064473 		1.000 0.080 2 25240717 missense variant C/G;T snv 1.2E-05
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.700 0
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: rs766858016
rs766858016 		0.882 0.200 2 25247710 stop gained T/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 0.700 0
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: rs766858016
rs766858016 		0.882 0.200 2 25247710 stop gained T/A;G snv 4.0E-06
CUI: C0014877
Disease: Esotropia
Esotropia 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs771174392
rs771174392 		0.925 0.200 2 25235779 missense variant T/C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 0
dbSNP: rs771174392
rs771174392 		0.925 0.200 2 25235779 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: rs772368909
rs772368909 		1.000 0.160 2 25240714 missense variant G/A snv 2.1E-05
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: rs951361433
rs951361433 		1.000 0.160 2 25244613 missense variant C/T snv 4.0E-06 7.0E-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 0