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
rs1042714	ADRB2	0.597	0.640	5	148826910	stop gained	G/C;T	snv	0.68		54
rs104894503	TPM1	0.776	0.160	15	63060899	missense variant	G/A	snv	1.6E-05	2.8E-05	9
rs10500279	RYR1	1.000	0.080	19	38544428	intron variant	G/C	snv		5.6E-02	1
rs1050606	ANXA5	1.000	0.080	4	121696891	5 prime UTR variant	A/C	snv		0.50	2
rs1060501439	MYH7	0.925	0.080	14	23424938	missense variant	T/A	snv			4
rs11053646	OLR1	0.724	0.280	12	10160849	missense variant	C/G	snv	0.11	0.13	18
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs11549465	HIF1A-AS3 ; HIF1A	0.597	0.680	14	61740839	missense variant	C/T	snv	8.8E-02	7.7E-02	55
rs11549467	HIF1A ; HIF1A-AS3	0.653	0.400	14	61740857	missense variant	G/A	snv	8.9E-03	7.0E-03	30
rs1178625972	GRAP2	1.000	0.080	22	39966117	missense variant	C/G	snv	2.4E-05	1.4E-05	1
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121908596	MAP2K1	0.807	0.240	15	66436837	missense variant	G/A;T	snv			7
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs1277204441	ACE	0.925	0.080	17	63479775	missense variant	C/T	snv		7.0E-06	2
rs1333049	CDKN2B-AS1	0.614	0.520	9	22125504	intron variant	G/C	snv		0.41	60
rs1349963459	PSEN1	0.925	0.080	14	73170901	missense variant	G/T	snv			2
rs1415088003	ACE	0.827	0.160	17	63489038	synonymous variant	C/T	snv	4.0E-06		7
rs142000963	LMNA	0.807	0.240	1	156138719	missense variant	C/A;T	snv	1.2E-03		8
rs1436109	NCAM1	1.000	0.080	11	113120896	intron variant	G/T	snv		8.5E-02	3
rs148158093	RPL36A-HNRNPH2 ; GLA	0.925	0.200	X	101403828	missense variant	G/A	snv	2.2E-04	4.0E-04	3
rs17132261	TMEM232	1.000	0.080	5	110672513	intron variant	C/T	snv		4.8E-02	2
rs17168525	MTPN ; LUZP6	1.000	0.080	7	135928514	3 prime UTR variant	G/A	snv		1.4E-02	1
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs1799998	CYP11B2	0.742	0.200	8	142918184	upstream gene variant	A/G;T	snv		0.38	14
rs1800888	ADRB2	0.695	0.400	5	148827322	missense variant	C/T	snv	9.1E-03	9.1E-03	23