rs147001633, DNMT3A

N. diseases: 15
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 0.700 1.000 36 1989 2018
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 0.700 1.000 36 1989 2018
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 0.700 1.000 36 1989 2018
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 0.800 1.000 21 2010 2019
Acute monocytic leukemia
CUI: C0023465
Disease: Acute monocytic leukemia
22 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 0.030 1.000 3 2014 2019
Leukemogenesis
CUI: C0598766
Disease: Leukemogenesis
25 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 0.030 1.000 3 2014 2019
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 0.030 1.000 3 2018 2019
Neoplasm, Residual
CUI: C0242596
Disease: Neoplasm, Residual
23 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 0.030 1.000 3 2015 2019
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 0.030 1.000 3 2018 2019
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
563 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 0.700 1.000 1 2016 2016
Hematological Disease
CUI: C0018939
Disease: Hematological Disease
16 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 0.010 1.000 1 2012 2012
leukemia
CUI: C0023418
Disease: leukemia
144 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 0.010 1.000 1 2016 2016
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
95 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 0.700 1.000 1 2016 2016
Tatton Brown Rahman syndrome
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
28 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 0.710 1.000 1 2017 2017
Leukemia, Myelomonocytic, Chronic
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
28 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 0.700 0