KMT2A, lysine methyltransferase 2A, 4297

N. diseases: 535; N. variants: 65
Disease: Muscle hypotonia ×
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: rs1555036394
rs1555036394 		1.000 11 118473352 frameshift variant A/- del
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 22 1989 2017
dbSNP: rs1555036436
rs1555036436 		1.000 11 118473420 frameshift variant C/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 22 1989 2017
dbSNP: rs1555039242
rs1555039242 		1.000 11 118481728 frameshift variant GA/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 22 1989 2017
dbSNP: rs1555046428
rs1555046428 		1.000 11 118503078 frameshift variant -/CAGAT delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 22 1989 2017
dbSNP: rs1555052879
rs1555052879 		1.000 11 118519746 frameshift variant C/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 22 1989 2017
dbSNP: rs782297546
rs782297546 		0.925 0.240 11 118473471 frameshift variant C/-;CC delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 22 1989 2017
dbSNP: rs886041896
rs886041896 		1.000 11 118494360 stop gained A/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 22 1989 2017