rs1560212751, DOCK3

N. diseases: 2
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 1.000 3 51208772 splice acceptor variant A/G snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1.000 3 51208772 splice acceptor variant A/G snv 0.700 0