DICER1, dicer 1, ribonuclease III, 23405

N. diseases: 302; N. variants: 191
Disease: Rhabdomyosarcoma, Embryonal, 2 ×
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: rs1060503625
rs1060503625 		0.882 0.080 14 95091289 missense variant G/A snv
CUI: C1867234
Disease: Rhabdomyosarcoma, Embryonal, 2
Rhabdomyosarcoma, Embryonal, 2 		Neoplasms 0.700 0
dbSNP: rs886037650
rs886037650 		1.000 0.040 14 95103488 frameshift variant AG/- delins
CUI: C1867234
Disease: Rhabdomyosarcoma, Embryonal, 2
Rhabdomyosarcoma, Embryonal, 2 		Neoplasms 0.700 0
dbSNP: rs886037651
rs886037651 		1.000 0.040 14 95103780 frameshift variant TGTAGT/A delins
CUI: C1867234
Disease: Rhabdomyosarcoma, Embryonal, 2
Rhabdomyosarcoma, Embryonal, 2 		Neoplasms 0.700 0