KMT2B, lysine methyltransferase 2B, 9757

N. diseases: 193; N. variants: 24
Disease: Anarthria speech disorder ×
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: rs1555727493
rs1555727493 		0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C0234517
Disease: Anarthria speech disorder
Anarthria speech disorder 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0