DisGeNET - a database of gene-disease associations

List of associated variants

Miller-McKusick-Malvaux-Syndrome (3M Syndrome), C1848862

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1561875767	CUL7 ; KLC4	1.000	0.200	6	43041036	stop gained	G/A	snv			14
rs1561892336	CUL7 ; KLC4	0.807	0.200	6	43050050	stop gained	C/T	snv			13
rs760929207	OBSL1	0.925	0.200	2	219568050	splice donor variant	ACCTTTGACTG/-	delins	8.1E-06	7.0E-06	12
rs1561873941	CUL7	0.925	0.200	6	43040335	frameshift variant	T/-	del			10
rs1561881909	CUL7 ; KLC4	0.925	0.200	6	43044835	frameshift variant	G/-	delins			9
rs1559155954	OBSL1	0.851	0.200	2	219568211	frameshift variant	-/A	delins			9
rs1561898352	CUL7 ; KLC4	0.882	0.200	6	43052582	frameshift variant	-/A	delins			8
rs1559155800	OBSL1	1.000	0.200	2	219568150	missense variant	C/T	snv			7
rs864309521	KLC4 ; CUL7	1.000	0.200	6	43043631	splice acceptor variant	C/G	snv			2
rs1064792895	KLC4 ; CUL7	1.000	0.200	6	43045321	frameshift variant	AG/-	delins			1
rs201406974	KLC4 ; CUL7	1.000	0.200	6	43046304	stop gained	A/C;G	snv	9.5E-05		1