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: rs1057518074
rs1057518074
KMT2A
1.000 0.240 11 118478096 missense variant G/A snv
CUI: C1854630
Disease: Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		0.700 1.000 2 2015 2017
dbSNP: rs1057519403
rs1057519403
KMT2A
1.000 0.240 11 118499835 missense variant G/A snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1057519403
rs1057519403
KMT2A
1.000 0.240 11 118499835 missense variant G/A snv
CUI: C1854630
Disease: Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		0.700 0
dbSNP: rs1057519407
rs1057519407
KMT2A
1.000 0.240 11 118490250 splice donor variant G/A snv
CUI: C1854630
Disease: Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		0.700 0
dbSNP: rs1057519408
rs1057519408
KMT2A
1.000 0.240 11 118499340 frameshift variant TTGT/- delins
CUI: C1854630
Disease: Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		0.700 0
dbSNP: rs1057519408
rs1057519408
KMT2A
1.000 0.240 11 118499340 frameshift variant TTGT/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
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: rs1131691433
rs1131691433
KMT2A
1.000 0.240 11 118488648 missense variant A/G snv
CUI: C1854630
Disease: Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		0.700 0
dbSNP: rs1131691503
rs1131691503
KMT2A
1.000 0.240 11 118478105 missense variant G/A;C snv
CUI: C1854630
Disease: Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		0.700 0
dbSNP: rs1131692268
rs1131692268
KMT2A
0.925 0.240 11 118504037 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: rs1131692268
rs1131692268
KMT2A
0.925 0.240 11 118504037 frameshift variant A/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1135401764
rs1135401764
KMT2A
1.000 0.240 11 118476983 splice donor variant G/A snv
CUI: C1854630
Disease: Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		0.700 0
dbSNP: rs1135401764
rs1135401764
KMT2A
1.000 0.240 11 118476983 splice donor variant G/A snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs150800017
rs150800017
KMT2A
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: 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: rs1555035779
rs1555035779
KMT2A
1.000 0.240 11 118472197 frameshift variant A/- del
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: rs1555036436
rs1555036436
KMT2A
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
KMT2A
1.000 11 118473420 frameshift variant C/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 22 1989 2017
dbSNP: rs1555036801
rs1555036801
KMT2A
1.000 0.240 11 118474055 stop gained A/T snv
CUI: C1854630
Disease: Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		0.700 0
dbSNP: rs1555038029
rs1555038029
KMT2A
0.776 0.400 11 118477973 stop gained C/A snv
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0
dbSNP: rs1555038029
rs1555038029
KMT2A
0.776 0.400 11 118477973 stop gained C/A snv
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		0.700 0
dbSNP: rs1555038029
rs1555038029
KMT2A
0.776 0.400 11 118477973 stop gained C/A snv
CUI: C1260959
Disease: Drusen
Drusen 		0.700 0