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: rs1565304395
rs1565304395
KMT2A
1.000 0.240 11 118504159 frameshift variant -/A delins
CUI: C1854630
Disease: Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		0.700 0
dbSNP: rs1555040480
rs1555040480
KMT2A
1.000 11 118484971 splice donor variant -/AG delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 22 1989 2017
dbSNP: rs1555053483
rs1555053483
KMT2A ; LOC101929089
1.000 11 118521302 frameshift variant -/C delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 22 1989 2017
dbSNP: rs863224888
rs863224888
KMT2A
1.000 0.240 11 118506224 frameshift variant -/C delins
CUI: C1854630
Disease: Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		0.700 0
dbSNP: rs1555046428
rs1555046428
KMT2A
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
KMT2A
1.000 11 118503078 frameshift variant -/CAGAT delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 22 1989 2017
dbSNP: rs1555043939
rs1555043939
KMT2A
0.851 0.240 11 118496323 frameshift variant -/G delins
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		0.700 0
dbSNP: rs1555043939
rs1555043939
KMT2A
0.851 0.240 11 118496323 frameshift variant -/G delins
CUI: C1856121
Disease: Broad eyebrow
Broad eyebrow 		0.700 0
dbSNP: rs1555043939
rs1555043939
KMT2A
0.851 0.240 11 118496323 frameshift variant -/G delins
CUI: C1854630
Disease: Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		0.700 0
dbSNP: rs1555043939
rs1555043939
KMT2A
0.851 0.240 11 118496323 frameshift variant -/G delins
CUI: C1844562
Disease: Medial flaring of the eyebrow
Medial flaring of the eyebrow 		0.700 0
dbSNP: rs1555043939
rs1555043939
KMT2A
0.851 0.240 11 118496323 frameshift variant -/G delins
CUI: C0423113
Disease: Telecanthus
Telecanthus 		0.700 0
dbSNP: rs1555043939
rs1555043939
KMT2A
0.851 0.240 11 118496323 frameshift variant -/G delins
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		0.700 0
dbSNP: rs1555043939
rs1555043939
KMT2A
0.851 0.240 11 118496323 frameshift variant -/G delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1555043939
rs1555043939
KMT2A
0.851 0.240 11 118496323 frameshift variant -/G delins
CUI: C3150077
Disease: Mild short stature
Mild short stature 		0.700 0
dbSNP: rs1555043939
rs1555043939
KMT2A
0.851 0.240 11 118496323 frameshift variant -/G delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs863224887
rs863224887
KMT2A
1.000 0.240 11 118481730 frameshift variant -/G delins
CUI: C1854630
Disease: Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		0.700 0
dbSNP: rs1555035550
rs1555035550
KMT2A
1.000 0.240 11 118471761 frameshift variant -/T ins
CUI: C1854630
Disease: Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		0.700 0
dbSNP: rs398122881
rs398122881
KMT2A
1.000 0.240 11 118490151 frameshift variant -/T delins
CUI: C1854630
Disease: Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		0.700 0
dbSNP: rs1555036394
rs1555036394
KMT2A
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
KMT2A
1.000 11 118473352 frameshift variant A/- del
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 22 1989 2017
dbSNP: rs1555039606
rs1555039606
KMT2A
1.000 11 118482436 frameshift variant A/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 22 1989 2017
dbSNP: rs1555039606
rs1555039606
KMT2A
1.000 11 118482436 frameshift variant A/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 22 1989 2017
dbSNP: rs1555046615
rs1555046615
KMT2A
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
KMT2A
1.000 11 118503389 frameshift variant A/- del
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 22 1989 2017
dbSNP: rs1555046615
rs1555046615
KMT2A
1.000 11 118503389 frameshift variant A/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 22 1989 2017