DisGeNET - a database of gene-disease associations

List of associated variants

Left Ventricular Hypertrophy, C0149721

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
rs75404003	TNFRSF11A	1.000	0.080	18	62361277	intron variant	C/-	delins			1
rs1277204441	ACE	0.925	0.080	17	63479775	missense variant	C/T	snv		7.0E-06	2
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs59026483	LMNA	0.827	0.160	1	156134457	missense variant	C/T	snv		7.0E-06	7
rs1178625972	GRAP2	1.000	0.080	22	39966117	missense variant	C/G	snv	2.4E-05	1.4E-05	1
rs397516005	MYBPC3	0.827	0.120	11	47333566	stop gained	G/A	snv	8.4E-06	2.8E-05	5
rs387907267	MYBPC3	0.851	0.120	11	47335120	stop gained	G/A	snv	1.2E-05	2.8E-05	4
rs104894503	TPM1	0.776	0.160	15	63060899	missense variant	G/A	snv	1.6E-05	2.8E-05	9
rs148158093	RPL36A-HNRNPH2 ; GLA	0.925	0.200	X	101403828	missense variant	G/A	snv	2.2E-04	4.0E-04	3
rs76992529	TTR	0.653	0.560	18	31598655	missense variant	G/A	snv	1.1E-03	4.9E-03	36
rs11549467	HIF1A ; HIF1A-AS3	0.653	0.400	14	61740857	missense variant	G/A	snv	8.9E-03	7.0E-03	30
rs1800888	ADRB2	0.695	0.400	5	148827322	missense variant	C/T	snv	9.1E-03	9.1E-03	23
rs17168525	MTPN ; LUZP6	1.000	0.080	7	135928514	3 prime UTR variant	G/A	snv		1.4E-02	1
rs9594782	TNFSF11	1.000	0.080	13	42577050	intron variant	T/C	snv		4.0E-02	1
rs17132261	TMEM232	1.000	0.080	5	110672513	intron variant	C/T	snv		4.8E-02	2
rs10500279	RYR1	1.000	0.080	19	38544428	intron variant	G/C	snv		5.6E-02	1
rs11549465	HIF1A-AS3 ; HIF1A	0.597	0.680	14	61740839	missense variant	C/T	snv	8.8E-02	7.7E-02	55
rs1436109	NCAM1	1.000	0.080	11	113120896	intron variant	G/T	snv		8.5E-02	3
rs9402349	ENPP1	1.000	0.080	6	131863968	intron variant	A/C	snv		9.8E-02	1
rs4762	AGT	0.637	0.440	1	230710231	missense variant	G/A	snv	0.12	0.11	35
rs11053646	OLR1	0.724	0.280	12	10160849	missense variant	C/G	snv	0.11	0.13	18
rs5029939	TNFAIP3	0.701	0.440	6	137874586	intron variant	C/G	snv		0.13	19
rs2071090	RYR1	1.000	0.080	19	38524814	intron variant	T/C	snv		0.15	1
rs1801252	ADRB1	0.724	0.320	10	114044277	missense variant	A/G	snv	0.15	0.17	17
rs2960321	RYR1	1.000	0.080	19	38557523	intron variant	C/A	snv		0.18	1