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: rs1057519444
rs1057519444
SYN3
0.925 0.120 22 32518208 missense variant GG/AA mnv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1057519444
rs1057519444
SYN3
0.925 0.120 22 32518208 missense variant GG/AA mnv
CUI: C0042798
Disease: Low Vision
Low Vision 		0.700 0
dbSNP: rs1057519444
rs1057519444
SYN3
0.925 0.120 22 32518208 missense variant GG/AA mnv
CUI: C0742028
Disease: Cerebellar vermis atrophy
Cerebellar vermis atrophy 		0.700 0
dbSNP: rs1057519444
rs1057519444
SYN3
0.925 0.120 22 32518208 missense variant GG/AA mnv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1057519444
rs1057519444
SYN3
0.925 0.120 22 32518208 missense variant GG/AA mnv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0