DisGeNET - a database of gene-disease associations

List of associated variants

Abnormality of the optic nerve, C0029131

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
rs368869806	PTCH1	0.614	0.480	9	95485875	splice acceptor variant	C/T	snv	4.0E-06	7.0E-06	97
rs61753219	PEX6	0.672	0.400	6	42978330	missense variant	G/A	snv	3.6E-05	2.8E-05	64
rs1010184002	PEX6	0.689	0.400	6	42978878	stop gained	C/T	snv		7.0E-06	60
rs1569355102	DYRK1A	0.695	0.360	21	37472869	frameshift variant	TAAC/-	delins			51
rs61755320	SPG7	0.716	0.520	16	89546737	missense variant	C/T	snv	2.9E-03	3.5E-03	41
rs267606826	FOXG1	0.708	0.520	14	28767903	stop gained	C/A;G;T	snv			38
rs1331463984	TRAF7	0.701	0.240	16	2176350	missense variant	G/A	snv			33
rs1217391623	SPG7	0.882	0.160	16	89556976	frameshift variant	G/-	del		7.0E-06	11
rs28940877	LOC107984363 ; TYR	0.807	0.200	11	89178218	missense variant	T/C	snv	4.0E-06	2.1E-05	9
rs1562203136	PHIP	0.882	0.120	6	79042902	frameshift variant	-/T	ins			9
rs376823382	LOC107984363 ; TYR	0.827	0.200	11	89284940	missense variant	A/G	snv	1.9E-04	2.2E-04	8