DisGeNET - a database of gene-disease associations

List of associated variants

WAARDENBURG SYNDROME, TYPE 4A, C1848519

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
rs781214034	EDNRB ; EDNRB-AS1	0.790	0.320	13	77903538	missense variant	C/T	snv	1.3E-04	2.8E-05	10
rs768126403	EDNRB	1.000	0.080	13	77918517	stop gained	G/A;T	snv			4
rs1569167515	POLR2F ; SOX10	0.925	0.200	22	37973567	inframe deletion	CTGGGGTCAGAGATG/-	delins			4
rs104894387	EDNRB ; EDNRB-AS1	0.882	0.080	13	77901181	missense variant	C/A	snv		2.8E-05	3
rs1569169328	POLR2F ; SOX10	0.925	0.200	22	37978136	splice acceptor variant	C/T	snv			3
rs74315521	POLR2F ; SOX10	0.882	0.120	22	37974148	stop gained	G/A	snv			3
rs104894391	EDNRB-AS1 ; EDNRB	0.925	0.080	13	77903356	stop gained	G/A;T	snv	4.0E-06		2
rs104894390	EDNRB-AS1 ; EDNRB	1.000	0.080	13	77903200	stop gained	G/A;T	snv	1.2E-05		1
rs1458799604	EDNRB-AS1 ; EDNRB	1.000	0.080	13	77903570	frameshift variant	C/-	del	4.0E-06		1
rs1555290659	EDNRB-AS1 ; EDNRB	1.000	0.080	13	77903541	missense variant	A/G	snv			1
rs104894388	EDNRB ; EDNRB-AS1	1.000	0.080	13	77903543	missense variant	G/C	snv			1