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: rs398122403
rs398122403
SYNJ1
11 0.807 0.080 21 32695106 missense variant C/T snv 1.2E-05 0.700 1.000 3 2013 2017
dbSNP: rs1569086116
rs1569086116
SYNJ1
2 0.925 21 32681650 splice acceptor variant T/C snv 0.700 1.000 2 2015 2016
dbSNP: rs1555907463
rs1555907463
SYNJ1
1 1.000 21 32699922 stop gained C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1060499619
rs1060499619
SYNJ1
4 0.851 0.040 21 32681590 missense variant C/G 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