DisGeNET - a database of gene-disease associations

List of associated variants

Delayed bone age, C0541764

Source: ALL

Results per page

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
rs199469465	SRCAP	0.672	0.560	16	30737343	stop gained	C/A;T	snv			50
rs1557781252	GATAD2B	0.742	0.320	1	153816414	stop gained	G/A	snv			33
rs864309486	GMNN	0.763	0.320	6	24777262	stop gained	A/T	snv			21
rs1085307845	PHIP	0.752	0.320	6	79025582	missense variant	G/T	snv			21
rs1441937959	EFL1	0.763	0.280	15	82240555	missense variant	T/C	snv	8.2E-06		20
rs864309487	GMNN	0.763	0.280	6	24777279	frameshift variant	TCAA/-	delins			20
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
rs886039900	AHDC1	0.925	0.320	1	27549887	frameshift variant	C/-	delins			8
rs1559155800	OBSL1	1.000	0.200	2	219568150	missense variant	C/T	snv			7
rs1060505029	TAF13	0.882	0.240	1	109066220	missense variant	A/T	snv			5