DisGeNET - a database of gene-disease associations

List of associated variants

MACULAR DYSTROPHY, PATTERNED, 1, C4551999

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
rs61755792	PRPH2	0.763	0.160	6	42721821	missense variant	G/A;C	snv			10
rs121918563	PRPH2	0.827	0.120	6	42721781	missense variant	A/G	snv	8.0E-06	1.4E-05	6
rs121918567	PRPH2	0.807	0.080	6	42704609	missense variant	C/A;T	snv	4.0E-06		6
rs61755798	PRPH2	0.827	0.080	6	42704564	missense variant	G/A;C	snv			6
rs61755771	PRPH2	0.827	0.160	6	42722199	stop gained	G/A	snv	1.6E-05	1.4E-05	5
rs61755787	PRPH2	0.882	0.120	6	42721866	missense variant	C/T	snv			5
rs61755781	PRPH2	0.851	0.080	6	42721913	missense variant	T/C	snv			4
rs527236098	PRPH2	0.925	0.080	6	42721836	missense variant	C/T	snv			2
rs61755786	PRPH2	0.925	0.080	6	42721872	inframe deletion	TTC/-	delins			2
rs61755789	PRPH2	0.925	0.080	6	42721835	missense variant	C/T	snv			2
rs61755802	PRPH2	1.000	0.040	6	42704556	missense variant	A/G	snv	4.0E-06		2
rs61755809	PRPH2	0.925	0.080	6	42704535	missense variant	G/A;T	snv	4.0E-06		2
rs61748429	PRPH2	1.000	0.040	6	42698438	frameshift variant	CA/-	del			1
rs61755774	PRPH2	1.000	0.040	6	42722133	missense variant	C/T	snv	4.0E-06		1
rs61755810	PRPH2	1.000	0.040	6	42704534	missense variant	C/T	snv	8.0E-06	7.0E-06	1
rs672601326	PRPH2	1.000	0.040	6	42721913	frameshift variant	-/AGTA	delins			1