Source: CLINVAR

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: rs1057519400
rs1057519400
SYNGAP1
1.000 0.160 6 33440958 frameshift variant TT/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1057519405
rs1057519405
SYNGAP1
1.000 0.160 6 33440735 frameshift variant C/- delins
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: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0