DisGeNET - a database of gene-disease associations

List of associated variants

CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1, C1842247

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
rs9369640	PHACTR1	0.851	0.080	6	12901209	intron variant	C/A;G	snv			4
rs17114036	PLPP3	0.851	0.120	1	56497149	intron variant	A/G	snv		0.11	5
rs854560	PON1	0.513	0.800	7	95316772	missense variant	A/C;G;N;T	snv	0.29		113
rs1122608	SMARCA4	0.763	0.120	19	11052925	intron variant	G/T	snv		0.18	16
rs2281727	SMG6	0.882	0.080	17	2214651	intron variant	A/G	snv		0.38	4
rs12190287	TCF21	0.708	0.280	6	133893387	3 prime UTR variant	C/G;T	snv			19
rs2075650	TOMM40	0.662	0.360	19	44892362	intron variant	A/G	snv	0.13	0.13	45
rs1561198	VAMP5	0.882	0.120	2	85582866	upstream gene variant	C/T	snv		0.52	3
rs6725887	WDR12	0.851	0.080	2	202881162	intron variant	T/C	snv		8.9E-02	4
rs11556924	ZC3HC1	0.752	0.240	7	130023656	missense variant	C/A;T	snv	4.0E-06; 0.28		21