rs1555038111, KMT2A

N. diseases: 37
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.
Advanced bone age
CUI: C0545053
Disease: Advanced bone age
4 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Amblyopia
CUI: C0002418
Disease: Amblyopia
29 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Ankyloglossia
CUI: C0152415
Disease: Ankyloglossia
2 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Apneic episodes in infancy
CUI: C3807980
Disease: Apneic episodes in infancy
2 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Bilateral microphthalmos
CUI: C1843496
Disease: Bilateral microphthalmos
11 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Bilateral ptosis
CUI: C1865916
Disease: Bilateral ptosis
14 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Chronic constipation
CUI: C0401149
Disease: Chronic constipation
16 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
39 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Congenital small ears
CUI: C0152423
Disease: Congenital small ears
13 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Delayed speech and language development
192 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Elbow hypertrichosis
CUI: C4025295
Disease: Elbow hypertrichosis
1 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Encephalopathy, CTCAE 3.0
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
24 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Fast-growing nails
CUI: C4280757
Disease: Fast-growing nails
1 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Fecal Incontinence
CUI: C0015732
Disease: Fecal Incontinence
12 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Frontal bossing
CUI: C0221354
Disease: Frontal bossing
22 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Growth Deficiency and Mental Retardation with Facial Dysmorphism
42 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Hirsutism
CUI: C0019572
Disease: Hirsutism
17 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Hypertrichosis
CUI: C0020555
Disease: Hypertrichosis
27 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
Involuntary Movements
CUI: C0427086
Disease: Involuntary Movements
5 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0