DisGeNET - a database of gene-disease associations

List of associated variants

Cardiomegaly, C0018800

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
rs796051877	GAA	0.807	0.320	17	80110055	splice region variant	G/A	snv	4.0E-06		11
rs10947055				6	30125587	intergenic variant	T/C	snv		0.11	3
rs16830359		1.000	0.080	1	43130713	intergenic variant	G/A;T	snv			3
rs1484170				10	80939735	downstream gene variant	T/C	snv		0.17	2
rs17636733				15	25667192	intergenic variant	T/C	snv		0.41	2
rs1916521				10	55657201	intergenic variant	C/T	snv		0.36	2
rs1320448	COL17A1			10	104086316	upstream gene variant	A/G	snv		0.92	2
rs12757165	ESRRG			1	216543195	intron variant	A/G	snv		0.29	2
rs152528	FGF1 ; SPRY4-AS1			5	142638295	intron variant	C/T	snv		0.28	2
rs12907914	LINC02694 ; LOC105370781			15	39023157	intron variant	G/C	snv		0.30	2
rs3729931	RAF1			3	12585017	intron variant	G/A	snv	0.35	0.43	2