DNMT3A, DNA methyltransferase 3 alpha, 1788

N. diseases: 350; N. variants: 56
Disease: Transposition of Great Vessels ×
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: rs2276598
rs2276598 		1.000 0.080 2 25246633 synonymous variant C/T snv 0.19 0.21
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2276599
rs2276599 		1.000 0.080 2 25247044 splice region variant C/T snv 0.71 0.69
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2017 2017