DisGeNET - a database of gene-disease associations

List of associated variants

Romano-Ward Syndrome, C0035828

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
rs137854601	SCN5A	0.776	0.120	3	38551022	stop gained	C/A;T	snv	4.0E-06		10
rs17215500	KCNQ1	0.807	0.240	11	2768881	stop gained	C/G;T	snv	1.0E-04		7
rs199472910	KCNH2	0.827	0.120	7	150952508	missense variant	G/A	snv	1.2E-05		5
rs28928905	KCNH2	0.851	0.120	7	150952514	missense variant	C/G;T	snv			5
rs199472696	KCNQ1	0.851	0.120	11	2570670	missense variant	C/T	snv	4.0E-06	1.4E-05	4
rs397508111	KCNQ1	0.882	0.120	11	2528023	splice region variant	G/A;C	snv	1.2E-05		3
rs397508112	KCNQ1	0.882	0.120	11	2570638	frameshift variant	T/-	del			3
rs794728565	KCNQ1	0.882	0.120	11	2527943	frameshift variant	G/-	delins			3
rs786204778	KCNQ1	0.925	0.120	11	2572891	frameshift variant	T/-	del	4.0E-06		2
rs794728865	SCN5A	0.925	0.120	3	38585903	stop gained	G/A	snv			2
rs1553431711	CALM2	1.000	0.120	2	47161816	missense variant	T/A	snv			1
rs1060502607	CALM3	1.000	0.120	19	46608846	missense variant	G/C	snv			1
rs1060502608	CALM3	1.000	0.120	19	46608584	missense variant	A/C	snv			1
rs1555814427	CALM3	1.000	0.120	19	46609125	missense variant	A/G	snv			1
rs786204395	PKP2	1.000	0.120	12	32796150	frameshift variant	GGTGTT/TTTC	delins			1
rs1553698563	SCN5A	1.000	0.120	3	38575452	splice acceptor variant	C/G	snv			1
rs199473073	SCN5A	1.000	0.120	3	38613757	missense variant	A/G	snv		7.0E-06	1