Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs875989808
rs875989808
SYNGAP1
0.925 0.160 6 33444529 missense variant C/T snv
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		0.700 0
dbSNP: rs875989808
rs875989808
SYNGAP1
0.925 0.160 6 33444529 missense variant C/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs875989808
rs875989808
SYNGAP1
0.925 0.160 6 33444529 missense variant C/T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 0