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
rs1333049	CDKN2B-AS1	0.614	0.520	9	22125504	intron variant	G/C	snv		0.41	60
rs1801253	ADRB1	0.683	0.440	10	114045297	missense variant	G/C	snv	0.74	0.69	34
rs1801252	ADRB1	0.724	0.320	10	114044277	missense variant	A/G	snv	0.15	0.17	17
rs2296545	LIPJ ; RNLS	0.851	0.160	10	88583080	missense variant	C/G;T	snv	0.46		8
rs768079285	NEBL	1.000	0.080	10	20840824	frameshift variant	T/-	delins	8.0E-06		2
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
rs397516037	MYBPC3	0.851	0.120	11	47332189	stop gained	G/A	snv	8.0E-06		4
rs1436109	NCAM1	1.000	0.080	11	113120896	intron variant	G/T	snv		8.5E-02	3
rs201278114	MYBPC3	0.925	0.120	11	47352635	missense variant	C/A;G	snv	4.3E-06; 3.0E-04		3
rs5443	CDCA3 ; GNB3	0.532	0.760	12	6845711	synonymous variant	C/T	snv	0.36	0.44	106
rs11053646	OLR1	0.724	0.280	12	10160849	missense variant	C/G	snv	0.11	0.13	18
rs4129218	LOC100507065	1.000	0.080	12	65564881	intron variant	G/A	snv		0.70	1
rs9594782	TNFSF11	1.000	0.080	13	42577050	intron variant	T/C	snv		4.0E-02	1
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
rs1060501439	MYH7	0.925	0.080	14	23424938	missense variant	T/A	snv			4
rs1349963459	PSEN1	0.925	0.080	14	73170901	missense variant	G/T	snv			2
rs1957757	HIF1A-AS3 ; HIF1A	1.000	0.080	14	61730230	intron variant	T/C	snv		0.74	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
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100