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: rs1555047506
rs1555047506
KMT2A
11 118505003 frameshift variant GTTT/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 22 1989 2017
dbSNP: rs1555047506
rs1555047506
KMT2A
11 118505003 frameshift variant GTTT/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 22 1989 2017
dbSNP: rs1064939
rs1064939
KMT2A ; TTC36 ; LOC101929089
11 118525616 3 prime UTR variant A/T snv 1.4E-02
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs1064939
rs1064939
KMT2A ; TTC36 ; LOC101929089
11 118525616 3 prime UTR variant A/T snv 1.4E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs74422681
rs74422681
KMT2A
11 118442155 intron variant A/G snv 4.4E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs1565278132
rs1565278132
KMT2A
11 118471919 frameshift variant A/-;AA delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv
CUI: C0401149
Disease: Chronic constipation
Chronic constipation 		0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv
CUI: C0427086
Disease: Involuntary Movements
Involuntary Movements 		0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv
CUI: C0152415
Disease: Ankyloglossia
Ankyloglossia 		0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv
CUI: C1854928
Disease: Protuberant abdomen
Protuberant abdomen 		0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv
CUI: C2673410
Disease: Small midface
Small midface 		0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv
CUI: C3807980
Disease: Apneic episodes in infancy
Apneic episodes in infancy 		0.700 0