DisGeNET - a database of gene-disease associations

List of associated variants

MYOPATHY, MYOSIN STORAGE (disorder), C1842160

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
rs3218716	MYH7	0.716	0.280	14	23425316	missense variant	C/A;G;T	snv	4.0E-06; 2.4E-05		17
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
rs727504753	MYH7	0.807	0.160	14	23429345	missense variant	C/T	snv			6
rs863224900	MYH7	0.807	0.160	14	23428534	missense variant	A/C;G;T	snv			6
rs121913654	MYH7 ; MHRT	0.882	0.160	14	23415176	missense variant	A/G	snv			3
rs28933098	MYH7 ; MHRT	0.882	0.160	14	23415021	missense variant	G/A;T	snv			3
rs145734640	MHRT ; MYH7	0.925	0.080	14	23415096	missense variant	G/A;C;T	snv	1.6E-05; 1.6E-05; 4.0E-06		1
rs121913649	MYH7 ; MHRT	1.000	0.080	14	23413847	missense variant	T/A	snv			1