rs1555038029, KMT2A

N. diseases: 12
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.776 0.400 11 118477973 stop gained C/A snv 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.776 0.400 11 118477973 stop gained C/A snv 0.700 0
Cervical spine instability
CUI: C0410652
Disease: Cervical spine instability
1 0.776 0.400 11 118477973 stop gained C/A snv 0.700 0
Drusen
CUI: C1260959
Disease: Drusen
18 0.776 0.400 11 118477973 stop gained C/A snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.776 0.400 11 118477973 stop gained C/A snv 0.700 0
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.776 0.400 11 118477973 stop gained C/A snv 0.700 0
Growth Deficiency and Mental Retardation with Facial Dysmorphism
CUI: C1854630
Disease: Growth Deficiency and Mental Retardation with Facial Dysmorphism
42 0.776 0.400 11 118477973 stop gained C/A snv 0.700 0
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 0.776 0.400 11 118477973 stop gained C/A snv 0.700 0
Laryngomalacia
CUI: C0264303
Disease: Laryngomalacia
18 0.776 0.400 11 118477973 stop gained C/A snv 0.700 0
Sleep Apnea, Obstructive
CUI: C0520679
Disease: Sleep Apnea, Obstructive
105 0.776 0.400 11 118477973 stop gained C/A snv 0.700 0
Thumb deformity
CUI: C0575897
Disease: Thumb deformity
7 0.776 0.400 11 118477973 stop gained C/A snv 0.700 0
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
87 0.776 0.400 11 118477973 stop gained C/A snv 0.700 0