KMT2A, lysine methyltransferase 2A, 4297

N. diseases: 535; N. variants: 65
Disease: Broad eyebrow ×
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: rs1555043939
rs1555043939 		0.851 0.240 11 118496323 frameshift variant -/G delins
CUI: C1856121
Disease: Broad eyebrow
Broad eyebrow 		0.700 0