rs1555928716, RPS6KA3

N. diseases: 7
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
CUI: C0454644
Disease: Delayed speech and language development
192 0.925 X 20167669 stop gained G/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 X 20167669 stop gained G/A snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.925 X 20167669 stop gained G/A snv 0.700 0
Long narrow head
CUI: C0221358
Disease: Long narrow head
26 0.925 X 20167669 stop gained G/A snv 0.700 0
Motor delay
CUI: C1854301
Disease: Motor delay
34 0.925 X 20167669 stop gained G/A snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 X 20167669 stop gained G/A snv 0.700 0
Thick vermilion border
CUI: C1836543
Disease: Thick vermilion border
15 0.925 X 20167669 stop gained G/A snv 0.700 0