KMT2A, lysine methyltransferase 2A, 4297

N. diseases: 535; N. variants: 65
Disease: Trigonocephaly ×
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: rs1555038111
rs1555038111 		0.701 0.480 11 118478153 stop gained T/G snv
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0