rs1057518776, DYNC1H1

N. diseases: 4
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.
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 0.080 14 101986027 missense variant T/A snv 0.700 0
Motor delay
CUI: C1854301
Disease: Motor delay
34 0.925 0.080 14 101986027 missense variant T/A snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.080 14 101986027 missense variant T/A snv 0.700 0
Polymicrogyria
CUI: C0266464
Disease: Polymicrogyria
29 0.925 0.080 14 101986027 missense variant T/A snv 0.700 0