rs1555043939, KMT2A

N. diseases: 9
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.
Broad eyebrow
CUI: C1856121
Disease: Broad eyebrow
4 0.851 0.240 11 118496323 frameshift variant -/G delins 0.700 0
Generalized hirsutism
CUI: C1849211
Disease: Generalized hirsutism
3 0.851 0.240 11 118496323 frameshift variant -/G delins 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.851 0.240 11 118496323 frameshift variant -/G delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.240 11 118496323 frameshift variant -/G delins 0.700 0
Growth Deficiency and Mental Retardation with Facial Dysmorphism
CUI: C1854630
Disease: Growth Deficiency and Mental Retardation with Facial Dysmorphism
42 0.851 0.240 11 118496323 frameshift variant -/G delins 0.700 0
Klippel-Feil Syndrome
CUI: C0022738
Disease: Klippel-Feil Syndrome
5 0.851 0.240 11 118496323 frameshift variant -/G delins 0.700 0
Medial flaring of the eyebrow
CUI: C1844562
Disease: Medial flaring of the eyebrow
2 0.851 0.240 11 118496323 frameshift variant -/G delins 0.700 0
Mild short stature
CUI: C3150077
Disease: Mild short stature
8 0.851 0.240 11 118496323 frameshift variant -/G delins 0.700 0
Telecanthus
CUI: C0423113
Disease: Telecanthus
14 0.851 0.240 11 118496323 frameshift variant -/G delins 0.700 0