DisGeNET - a database of gene-disease associations

List of associated variants

Duane Retraction Syndrome, Type 2, C0751083

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
rs1553475005	CHN1	1.000	0.120	2	174824485	missense variant	A/G	snv			4
rs879255276	MAFB	0.882	0.120	20	40688411	frameshift variant	C/-	delins			3
rs879255277	MAFB	0.882	0.120	20	40688207	frameshift variant	T/-	del			3
rs121912793	CHN1	0.925	0.120	2	174878011	missense variant	A/C	snv		7.0E-06	2
rs879255275	MAFB	0.925	0.120	20	40688048	frameshift variant	T/-	delins			2
rs121912792	CHN1	1.000	0.120	2	174944942	missense variant	T/A;C	snv			1
rs121912794	CHN1	1.000	0.120	2	174877962	missense variant	A/G	snv			1
rs121912795	CHN1	1.000	0.120	2	174824478	missense variant	G/A	snv			1
rs121912796	CHN1	1.000	0.120	2	174824464	missense variant	C/T	snv			1
rs121912797	CHN1	1.000	0.120	2	174812440	missense variant	G/T	snv			1
rs121912798	CHN1	1.000	0.120	2	174811538	missense variant	C/T	snv			1
rs387906599	CHN1	1.000	0.120	2	174877967	missense variant	G/A	snv	4.0E-06		1
rs387906600	CHN1	1.000	0.120	2	174812441	missense variant	G/A	snv			1