KMT2A, lysine methyltransferase 2A, 4297

N. diseases: 535; N. variants: 65
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: rs150800017
rs150800017
1.000 11 118489816 stop gained C/G;T snv 8.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 22 1989 2017
dbSNP: rs1555036394
rs1555036394
1.000 11 118473352 frameshift variant A/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 22 1989 2017
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: C0432072
Disease: Dysmorphic features
Dysmorphic features
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: rs1555039242
rs1555039242
1.000 11 118481728 frameshift variant GA/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 22 1989 2017
dbSNP: rs1555039343
rs1555039343
1.000 11 118481870 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 22 1989 2017
dbSNP: rs1555039606
rs1555039606
1.000 11 118482436 frameshift variant A/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 22 1989 2017
dbSNP: rs1555039606
rs1555039606
1.000 11 118482436 frameshift variant A/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 22 1989 2017
dbSNP: rs1555040480
rs1555040480
1.000 11 118484971 splice donor variant -/AG delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 22 1989 2017
dbSNP: rs1555046404
rs1555046404
1.000 11 118503042 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 22 1989 2017
dbSNP: rs1555046428
rs1555046428
1.000 11 118503078 frameshift variant -/CAGAT delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
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: rs1555046615
rs1555046615
1.000 11 118503389 frameshift variant A/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 22 1989 2017
dbSNP: rs1555046615
rs1555046615
1.000 11 118503389 frameshift variant A/- del
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 22 1989 2017
dbSNP: rs1555046615
rs1555046615
1.000 11 118503389 frameshift variant A/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 22 1989 2017
dbSNP: rs1555047506
rs1555047506
11 118505003 frameshift variant GTTT/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 22 1989 2017
dbSNP: rs1555047506
rs1555047506
11 118505003 frameshift variant GTTT/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 22 1989 2017
dbSNP: rs1555052879
rs1555052879
1.000 11 118519746 frameshift variant C/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
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: rs1555053483
rs1555053483
1.000 11 118521302 frameshift variant -/C delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 22 1989 2017
dbSNP: rs1555138529
rs1555138529
1.000 11 118436642 frameshift variant C/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 22 1989 2017
dbSNP: rs781978013
rs781978013
1.000 11 118472681 stop gained G/A;T snv 4.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 22 1989 2017
dbSNP: rs781978013
rs781978013
1.000 11 118472681 stop gained G/A;T snv 4.0E-06
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 22 1989 2017