rs1555727493, KMT2B

N. diseases: 46
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.
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Mildly elevated creatine phosphokinase
CUI: C1850309
Disease: Mildly elevated creatine phosphokinase
1 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Mydriasis
CUI: C0026961
Disease: Mydriasis
2 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Myopathic facies
CUI: C0332615
Disease: Myopathic facies
15 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Nasal, dysarthic speech
CUI: C1834664
Disease: Nasal, dysarthic speech
3 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Opisthotonus
CUI: C0151818
Disease: Opisthotonus
2 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Organic aciduria
CUI: C0241775
Disease: Organic aciduria
1 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Pre-Eclampsia
CUI: C0032914
Disease: Pre-Eclampsia
14 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Precocious Puberty
CUI: C0034013
Disease: Precocious Puberty
20 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Premature Birth
CUI: C0151526
Disease: Premature Birth
50 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Progressive choreoathetosis
CUI: C1860216
Disease: Progressive choreoathetosis
1 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Recurrent sinusitis
CUI: C0581354
Disease: Recurrent sinusitis
3 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Reduced fetal movement
CUI: C0235659
Disease: Reduced fetal movement
17 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Retinal lattice degeneration
CUI: C0154856
Disease: Retinal lattice degeneration
2 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Retrocollis
CUI: C3887667
Disease: Retrocollis
1 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Sinus Tachycardia
CUI: C0039239
Disease: Sinus Tachycardia
5 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Small for gestational age (disorder)
CUI: C0235991
Disease: Small for gestational age (disorder)
34 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Temperature instability
CUI: C1820737
Disease: Temperature instability
8 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Toe-walking gait
CUI: C0427144
Disease: Toe-walking gait
4 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Tooth Crowding
CUI: C0040433
Disease: Tooth Crowding
19 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
Weight less than 3rd percentile
CUI: C1844806
Disease: Weight less than 3rd percentile
27 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0