Table 4-.

Replication phase: potential disease-causing variants only present in Alzheimer’s disease and related dementia cases in AMP PD

Cases
Variant status	Gene	Position	rs ID	Number of DLB Cases	AF in DLB Cases (n=2530)	AF(AAC)-DLB (n=0)	AF(AMR)-DLB (n=0)	AF(FIN)-DLB (n=5)	AF(CAS)-DLB (n=0)	AF(MDE)-DLB (n=6)	AF(AFR)-DLB (n=0)	AF(EAS)-DLB (n=0)	AF(AJ)-DLB (n=113)	AF(SAS)-DLB (n=0)	AF(EUR)-DLB (n=2406)	AF(CAH)-DLB (n=0)
AoU
Known	APP	chr21: 25891796:C:T	rs63750066	1	1.98E-04	0	0	0	0	0	0	0	0	0	2.08E-04	0
Novel	MAPT	chr17:46024088:G:A	rs768841567	1	1.98E-04	0	0	0	0	0	0	0	0	0	2.08E-04	0
UKB
Novel	GRN	chr17:44352395:G:A	rs886053006	0	0	0	0	0	0	0	0	0	0	0	0	0
Known	GRN	chr17:44352404:C:T	rs63751294	1	1.98E-04	0	0	0	0	0	0	0	0	0	2.08E-04	0
Novel	APP	chr21:25905048:C:T	rs368159818	1	1.98E-04	0	0	0	0	0	0	0	0	0	2.08E-04	0
Controls
Variant status	Gene	Position	rs ID	Number of Controls	AF in Controls (n=3270)	AF(AAC)-Controls (n=40)	AF(AMR)-Controls (n=14)	AF(FIN)-Controls (n=5)	AF(CAS)-Controls (n=3)	AF(MDE)-Controls (n=4)	AF(AFR)-Controls (n=29)	AF(EAS)-Controls (n=5)	AF(AJ)-Controls (n=246)	AF(SAS)-Controls (n=1)	AF(EUR)-Controls (n=2919)	AF(CAH)-Controls (n=4)
AoU
Known	APP	chr21: 25891796:C:T	rs63750066	1	1.53E-04	0	0	0	0	0	0	0	0	0	1.71E-04	0
Novel	MAPT	chr17:46024088:G:A	rs768841567	1	1.53E-04	0	0	0	0	0	0	0	0	0	1.71E-04	0
UKB
Novel	GRN	chr17:44352395:G:A	rs886053006	1	1.53E-04	0	0	0	0	0	0	0	0	0	1.71E-04	0
Known	GRN	chr17:44352404:C:T	rs63751294	0	0	0	0	0	0	0	0	0	0	0	0	0
Novel	APP	chr21:25905048:C:T	rs368159818	1	1.53E-04	0	0	0	0	0	0	0	0	0	1.71E-04	0

Key: UKB, UK Biobank; AMP PD, Accelerating Medicines Partnership in Parkinson’s Disease ; AoU, All of Us; Position refers to GRCh 38.