Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555043939
rs1555043939
KMT2A
0.851 0.240 11 118496323 frameshift variant -/G delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0