SYNJ1, synaptojanin 1, 8867

N. diseases: 128; N. variants: 12
Disease: PARKINSON DISEASE 20, EARLY-ONSET ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs398122403
rs398122403 		0.807 0.080 21 32695106 missense variant C/T snv 1.2E-05
CUI: C3809824
Disease: PARKINSON DISEASE 20, EARLY-ONSET
PARKINSON DISEASE 20, EARLY-ONSET 		0.700 1.000 3 2013 2017
dbSNP: rs1569086116
rs1569086116 		0.925 21 32681650 splice acceptor variant T/C snv
CUI: C3809824
Disease: PARKINSON DISEASE 20, EARLY-ONSET
PARKINSON DISEASE 20, EARLY-ONSET 		0.700 1.000 2 2015 2016
dbSNP: rs1555907463
rs1555907463 		1.000 21 32699922 stop gained C/T snv
CUI: C3809824
Disease: PARKINSON DISEASE 20, EARLY-ONSET
PARKINSON DISEASE 20, EARLY-ONSET 		0.700 1.000 1 2017 2017
dbSNP: rs1060499619
rs1060499619 		0.851 0.040 21 32681590 missense variant C/G snv
CUI: C3809824
Disease: PARKINSON DISEASE 20, EARLY-ONSET
PARKINSON DISEASE 20, EARLY-ONSET 		0.700 0
dbSNP: rs1569147057
rs1569147057 		0.925 21 32728017 stop gained C/T snv
CUI: C3809824
Disease: PARKINSON DISEASE 20, EARLY-ONSET
PARKINSON DISEASE 20, EARLY-ONSET 		0.700 0
dbSNP: rs778394516
rs778394516 		0.925 21 32656687 frameshift variant CTTAT/- del 8.1E-06
CUI: C3809824
Disease: PARKINSON DISEASE 20, EARLY-ONSET
PARKINSON DISEASE 20, EARLY-ONSET 		0.700 0