DisGeNET - a database of gene-disease associations

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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 GENOME	Num. diseases
rs2252865	RERE	0.851	0.040	1	8362616	intron variant	T/C	snv	0.72	6
rs301806	RERE	0.851	0.120	1	8422018	intron variant	C/T	snv	0.62	4
rs301807	RERE-AS1 ; RERE	0.925	0.080	1	8424763	intron variant	A/G;T	snv		4
rs301805	RERE	1.000	0.080	1	8420956	intron variant	T/G	snv	0.65	3
rs301819	RERE	0.882	0.120	1	8441726	intron variant	A/G;T	snv		3
rs159963	RERE	1.000	0.040	1	8444361	intron variant	C/A	snv	0.52	3
rs301817	RERE	0.925	0.120	1	8443319	intron variant	C/A;G;T	snv		2
rs3795310	RERE	1.000	0.040	1	8371547	intron variant	C/T	snv	0.54	2
rs302719	RERE-AS1 ; RERE	1.000	0.040	1	8430260	intron variant	T/G	snv	0.33	2
rs301798	RERE ; RERE-AS1	1.000	0.040	1	8428505	non coding transcript exon variant	A/G	snv	0.30	2
rs11121240	RERE	1.000	0.080	1	8834298	intron variant	A/T	snv	0.51	1
rs301816	RERE	1.000	0.080	1	8444998	intron variant	G/A	snv	0.55	1
rs11581328	RERE			1	8447713	intron variant	G/A	snv	0.16	1
rs6670508	RERE			1	8587858	intron variant	G/A;C	snv	0.62	1
rs142472947	RERE			1	8460428	intron variant	AAG/-	delins	0.16	1
rs4908508	RERE			1	8740721	intron variant	T/C	snv	0.20	1
rs172531	RERE	1.000	0.040	1	8435530	intron variant	A/G	snv	0.31	1
rs34269918	RERE	1.000	0.040	1	8364925	intron variant	A/-	delins	0.69	1
rs4908760	RERE	1.000	0.040	1	8466082	intron variant	G/A	snv	0.68	1
rs34976449	RERE			1	8438266	3 prime UTR variant	-/G	delins	0.66	1
rs55823627	RERE			1	8402019	intron variant	C/T	snv	0.14	1
rs159960	RERE			1	8416368	intron variant	A/G	snv	0.45	1
rs301795	RERE	1.000	0.040	1	8407293	intron variant	G/A	snv	0.27	1
rs6695867	RERE	1.000	0.040	1	8670720	intron variant	G/A	snv	0.63	1
rs11121210	RERE			1	8648470	intron variant	T/C	snv	0.65	1