DisGeNET - a database of gene-disease associations

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
rs61755783	PRPH2	0.763	0.080	6	42721911	missense variant	G/A	snv		1.4E-05	11
rs121918563	PRPH2	0.827	0.120	6	42721781	missense variant	A/G	snv	8.0E-06	1.4E-05	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
rs61755781	PRPH2	0.851	0.080	6	42721913	missense variant	T/C	snv			4
rs139185976	PRPH2	0.882	0.080	6	42704570	missense variant	C/T	snv	4.8E-05	9.8E-05	3
rs61755797	PRPH2	0.882	0.080	6	42704565	missense variant	G/A;C	snv	4.0E-06		3
rs61755799	PRPH2	0.882	0.160	6	42704560	missense variant	G/T	snv			3
rs61755800	PRPH2	0.882	0.080	6	42704559	missense variant	T/C;G	snv	8.0E-06		3
rs61755805	PRPH2	0.882	0.080	6	42704547	missense variant	G/A	snv			3
rs61755806	PRPH2	0.882	0.080	6	42704546	missense variant	G/A	snv	4.0E-06	7.0E-06	3
rs61755770	PRPH2	0.925	0.080	6	42722202	missense variant	G/A	snv	1.1E-03	4.1E-03	2
rs61755786	PRPH2	0.925	0.080	6	42721872	inframe deletion	TTC/-	delins			2
rs61755804	PRPH2	0.925	0.080	6	42704552	missense variant	C/G;T	snv			2
rs61755816	PRPH2	0.925	0.080	6	42704461	missense variant	G/C;T	snv			2
rs62645935	PRPH2	0.925	0.080	6	42704396	missense variant	C/T	snv			2
rs61754402	PRPH2	1.000	0.080	6	42722298	missense variant	G/A;T	snv	4.3E-04		1
rs61755777	PRPH2	1.000	0.080	6	42721977	inframe deletion	CAG/-	delins			1
rs61755785	PRPH2	1.000	0.080	6	42721877	missense variant	T/C	snv			1
rs61755788	PRPH2	1.000	0.080	6	42721841	missense variant	C/T	snv			1
rs61755794	PRPH2	1.000	0.080	6	42721817	missense variant	T/A	snv			1
rs61755807	PRPH2	1.000	0.080	6	42704535	inframe deletion	TGG/-	delins			1