rs1553749681, DOCK3

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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.925 3 51064514 stop gained C/T snv 0.700 1.000 23 2000 2018
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.925 3 51064514 stop gained C/T snv 0.700 1.000 23 2000 2018
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 3 51064514 stop gained C/T snv 0.700 1.000 23 2000 2018
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA
CUI: C4749014
Disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA
4 0.925 3 51064514 stop gained C/T snv 0.700 0