rs1057518786, SYNGAP1

N. diseases: 5
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 1.000 6 33441374 splice region variant G/A snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 1.000 6 33441374 splice region variant G/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 1.000 6 33441374 splice region variant G/A snv 0.700 0
Preauricular skin tag
CUI: C1860816
Disease: Preauricular skin tag
4 1.000 6 33441374 splice region variant G/A snv 0.700 0
Stereotypic Movement Disorder
CUI: C0038273
Disease: Stereotypic Movement Disorder
26 1.000 6 33441374 splice region variant G/A snv 0.700 0