rs587782993, PURA

N. diseases: 6
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 0.882 0.080 5 140114737 stop gained C/T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.080 5 140114737 stop gained C/T snv 0.700 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
CUI: C4015357
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
29 0.882 0.080 5 140114737 stop gained C/T snv 0.700 0
Neonatal Hypotonia
CUI: C2267233
Disease: Neonatal Hypotonia
45 0.882 0.080 5 140114737 stop gained C/T snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.882 0.080 5 140114737 stop gained C/T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.080 5 140114737 stop gained C/T snv 0.700 0