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
rs28935197	GLA ; RPL36A-HNRNPH2	0.776	0.280	X	101398942	missense variant	T/C	snv	5.5E-06		10
rs2074192	ACE2	0.827	0.160	X	15564667	intron variant	C/T	snv		0.40	9
rs2106809	ACE2	0.827	0.120	X	15599938	intron variant	A/G	snv		0.19	8
rs148158093	RPL36A-HNRNPH2 ; GLA	0.925	0.200	X	101403828	missense variant	G/A	snv	2.2E-04	4.0E-04	3
rs1178625972	GRAP2	1.000	0.080	22	39966117	missense variant	C/G	snv	2.4E-05	1.4E-05	1
rs756529	KCNB1 ; LOC105372649	1.000	0.080	20	49394471	intron variant	G/A	snv		0.44	1
rs10500279	RYR1	1.000	0.080	19	38544428	intron variant	G/C	snv		5.6E-02	1
rs2071090	RYR1	1.000	0.080	19	38524814	intron variant	T/C	snv		0.15	1
rs2960321	RYR1	1.000	0.080	19	38557523	intron variant	C/A	snv		0.18	1
rs28933979	TTR	0.587	0.600	18	31592974	missense variant	G/A;C	snv	1.0E-04		70
rs76992529	TTR	0.653	0.560	18	31598655	missense variant	G/A	snv	1.1E-03	4.9E-03	36
rs75404003	TNFRSF11A	1.000	0.080	18	62361277	intron variant	C/-	delins			1
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs4291	ACE	0.724	0.400	17	63476833	upstream gene variant	T/A;C	snv			20
rs4343	ACE	0.742	0.480	17	63488670	synonymous variant	G/A	snv	0.53		14
rs1415088003	ACE	0.827	0.160	17	63489038	synonymous variant	C/T	snv	4.0E-06		7
rs1277204441	ACE	0.925	0.080	17	63479775	missense variant	C/T	snv		7.0E-06	2
rs238234	CAMTA2	1.000	0.080	17	4980523	missense variant	C/A;G;T	snv	5.6E-05; 0.75; 8.1E-06		1
rs104894503	TPM1	0.776	0.160	15	63060899	missense variant	G/A	snv	1.6E-05	2.8E-05	9
rs121908596	MAP2K1	0.807	0.240	15	66436837	missense variant	G/A;T	snv			7
rs4966014	IGF1R	0.882	0.200	15	98704789	intron variant	C/G;T	snv			3
rs2292462	NMB	1.000	0.080	15	84657523	intron variant	G/C;T	snv			2
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
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