Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1569086116
rs1569086116
SYNJ1
2 0.925 21 32681650 splice acceptor variant T/C snv 0.700 1.000 2 2015 2016
dbSNP: rs1057524877
rs1057524877
SYNJ1
1 1.000 21 32657036 missense variant T/C snv 0.700 0
dbSNP: rs1057524878
rs1057524878
SYNJ1
1 1.000 21 32657766 stop gained C/T snv 0.700 0
dbSNP: rs1057524879
rs1057524879
SYNJ1
1 1.000 21 32666564 frameshift variant A/- del 0.700 0
dbSNP: rs1057524880
rs1057524880
SYNJ1
1 1.000 21 32645791 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1569147057
rs1569147057
SYNJ1 ; PAXBP1-AS1
2 0.925 21 32728017 stop gained C/T snv 0.700 0
dbSNP: rs778394516
rs778394516
SYNJ1
2 0.925 21 32656687 frameshift variant CTTAT/- del 8.1E-06 0.700 0