PsyMuKB

Variant type	Phenotypes				Total	Case																											Control				Others
Variant type	Phenotypes				Total	AFND	ALS	A/M	ADHD	ASD	BP	CS	CP	CDH	CHD	DEE	DD	eoAD	eoHM	eoPD	EE	IS	ID	LGS	MTLE-HS	ASD or SCZ	NTD	OCD	SCZ	Sotos	SISS	TD	Sibling	non-PTB	PTB	Mh	Others
De novo variants hit small genomic regions (DNMs)	DNM hits protein coding regions	All mutations			6	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	1	0	0	2	0
		Non-symonymous	Loss of function (LoF)	Frameshift	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
				Nonsense	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
				Splice-site	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
			Missense		6	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	1	0	0	2	0
			Stop-gain		0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
			Stop-loss		0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
			Non-frameshit		0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
		Synonymous SNV			0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
	DNM hits non-coding regions	All mutations			1118	0	0	0	0	408	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	6	0	0	0	0	0	0	184	21	20	479	0
		Intronic			376	0	0	0	0	133	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	77	8	4	153	0
		UTR region			2	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	2	0
		Up-/down-stream			0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
		Intergenic			740	0	0	0	0	275	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	5	0	0	0	0	0	0	107	13	16	324	0
		Non-coding RNA			0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
De novo variants hit large genomic regions	copy number variation (CNVs)	Deletion			1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1				0
De novo variants hit large genomic regions	copy number variation (CNVs)	Duplication			0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0				0