rs1057518961, DYNC1H1

N. diseases: 5
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.
Delayed speech and language development
192 0.925 0.040 14 102012450 missense variant C/T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 0.040 14 102012450 missense variant C/T snv 0.700 0
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.925 0.040 14 102012450 missense variant C/T snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.925 0.040 14 102012450 missense variant C/T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.040 14 102012450 missense variant C/T snv 0.700 0