DisGeNET - a database of gene-disease associations

List of associated variants

Hypertrophic Cardiomyopathy, C0007194

Source: CLINVAR ×

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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
rs104894229	LRRC56 ; HRAS	0.564	0.600	11	534289	missense variant	C/A;G;T	snv			52
rs180177035	BRAF	0.752	0.280	7	140801502	missense variant	T/C	snv			35
rs80338796	RAF1	0.667	0.480	3	12604200	missense variant	G/A;C	snv	4.0E-06		35
rs397507520	PTPN11	0.658	0.520	12	112453279	missense variant	G/C;T	snv			34
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		32
rs121918457	PTPN11	0.701	0.280	12	112488466	missense variant	C/T	snv	4.0E-06	7.0E-06	18
rs3218716	MYH7	0.716	0.280	14	23425316	missense variant	C/A;G;T	snv	4.0E-06; 2.4E-05		17
rs672601334	RIT1	0.752	0.400	1	155904798	missense variant	G/C	snv			17
rs730881014	RIT1	0.776	0.360	1	155904494	stop gained	A/C;G;T	snv			15
rs753611141	PMPCA	0.827	0.280	9	136418847	missense variant	G/A;T	snv	2.4E-05; 4.0E-06		14
rs768643552	PMPCA	0.851	0.240	9	136418630	missense variant	G/A;C	snv	4.0E-06		13
rs121918456	PTPN11	0.752	0.280	12	112473023	missense variant	A/C;G	snv			11
rs796051877	GAA	0.807	0.320	17	80110055	splice region variant	G/A	snv	4.0E-06		10
rs587782958	MYBPC3	0.790	0.120	11	47333552	splice region variant	C/T	snv	1.7E-05		10
rs121913628	MYH7	0.763	0.160	14	23424059	missense variant	C/G;T	snv			10
rs3218713	MYH7	0.763	0.160	14	23431468	missense variant	C/A;T	snv			10
rs267606908	MYH7	0.763	0.160	14	23424112	missense variant	T/C	snv	4.0E-06	7.0E-06	9
rs3218714	MYH7	0.763	0.160	14	23429279	missense variant	G/A;C	snv			9
rs371898076	MYH7	0.763	0.160	14	23426833	missense variant	C/T	snv	8.0E-06	4.9E-05	9
rs397516127	MYH7	0.763	0.160	14	23426834	missense variant	G/A;C	snv			9
rs397516171	MYH7	0.763	0.160	14	23424041	missense variant	C/G;T	snv			9
rs397516264	MYH7	0.763	0.160	14	23431602	missense variant	C/T	snv	4.0E-06		9
rs121918462	PTPN11	0.742	0.320	12	112450398	missense variant	C/T	snv			8
rs121912683	SLC25A4	0.851	0.200	4	185145020	missense variant	C/A	snv	4.0E-06	7.0E-06	8
rs193922680	ACTC1 ; LOC101928174	0.790	0.080	15	34793398	missense variant	C/T	snv	4.0E-06	7.0E-06	7