DNMT3A, DNA methyltransferase 3 alpha, 1788

N. diseases: 350; N. variants: 56
Disease: Malignant Neoplasms ×
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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.030 1.000 3 2018 2019
dbSNP: rs13428812
rs13428812 		0.827 0.120 2 25269598 intron variant A/G snv 0.31
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1550117
rs1550117 		0.790 0.320 2 25343038 upstream gene variant A/G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs6733868
rs6733868 		0.851 0.120 2 25276998 intron variant C/G snv 0.50
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs779315943
rs779315943 		0.882 0.160 2 25247708 frameshift variant TTTCC/- del
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015