rs1569355102, DYRK1A

N. diseases: 51
Source: CLINVAR ×
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.
Abnormal behavior
CUI: C0233514
Disease: Abnormal behavior
19 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
Abnormality of the cerebral cortex
CUI: C4025701
Disease: Abnormality of the cerebral cortex
8 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
Abnormality of the cerebral ventricles
CUI: C4025724
Disease: Abnormality of the cerebral ventricles
5 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
Abnormality of the optic nerve
CUI: C0029131
Disease: Abnormality of the optic nerve
11 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
Abnormality of the skull
CUI: C0235942
Disease: Abnormality of the skull
9 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
Abnormality of the subarachnoid space
CUI: C4022765
Disease: Abnormality of the subarachnoid space
4 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
Birth length less than 3rd percentile
CUI: C1855650
Disease: Birth length less than 3rd percentile
13 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
Cafe-au-Lait Spots
CUI: C0221263
Disease: Cafe-au-Lait Spots
32 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
Congenital small ears
CUI: C0152423
Disease: Congenital small ears
11 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
Craniofacial disproportion
CUI: C1867114
Disease: Craniofacial disproportion
5 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
Cutaneous syndactyly of toes
CUI: C1834737
Disease: Cutaneous syndactyly of toes
1 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
Decreased body mass index
CUI: C0231255
Disease: Decreased body mass index
3 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
Delayed fine motor development
CUI: C4023681
Disease: Delayed fine motor development
13 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
Dilated ventricles (finding)
CUI: C3278923
Disease: Dilated ventricles (finding)
32 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
Expressive language delay
CUI: C0454641
Disease: Expressive language delay
25 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
505 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
Hyperpigmentation
CUI: C0162834
Disease: Hyperpigmentation
11 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
Hypoplastic feet
CUI: C1848673
Disease: Hypoplastic feet
21 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
Maternal fever in pregnancy
CUI: C4021041
Disease: Maternal fever in pregnancy
1 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
Maternal first trimester fever
CUI: C4022561
Disease: Maternal first trimester fever
1 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0