rs1131692154, SYNGAP1

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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.925 0.160 6 33432700 stop gained C/T snv 0.700 1.000 18 2004 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.160 6 33432700 stop gained C/T snv 0.700 1.000 18 2004 2017
Excessive daytime sleepiness
CUI: C4551761
Disease: Excessive daytime sleepiness
5 0.925 0.160 6 33432700 stop gained C/T snv 0.700 0
Irritation - emotion
CUI: C2700617
Disease: Irritation - emotion
14 0.925 0.160 6 33432700 stop gained C/T snv 0.700 0
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
CUI: C1970199
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
5 0.925 0.160 6 33432700 stop gained C/T snv 0.700 0
Motor delay
CUI: C1854301
Disease: Motor delay
34 0.925 0.160 6 33432700 stop gained C/T snv 0.700 0