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: rs1565922395
rs1565922395
SYT1
0.925 12 79353602 missense variant A/G snv
CUI: C4748715
Disease: BAKER-GORDON SYNDROME
BAKER-GORDON SYNDROME 		0.700 1.000 1 2018 2018
dbSNP: rs1565922395
rs1565922395
SYT1
0.925 12 79353602 missense variant A/G snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 0
dbSNP: rs1565922395
rs1565922395
SYT1
0.925 12 79353602 missense variant A/G snv
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		0.700 0
dbSNP: rs1565922395
rs1565922395
SYT1
0.925 12 79353602 missense variant A/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1565922395
rs1565922395
SYT1
0.925 12 79353602 missense variant A/G snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0