DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Hypertrophic Cardiomyopathy ×

Variants associated to the Gene: MYL2 ×

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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
rs104894368	MYL2	0.882	0.080	12	110919133	stop gained	C/A;G;T	snv	4.0E-06; 8.0E-06; 2.0E-05		3
rs104894369	MYL2	0.807	0.080	12	110914287	missense variant	C/A;T	snv			3
rs587782965	MYL2	0.882	0.080	12	110914221	missense variant	G/T	snv			3
rs397516407	MYL2	0.925	0.080	12	110911090	missense variant	T/C;G	snv			2
rs397516408	MYL2	0.925	0.080	12	110919117	missense variant	T/C	snv			2
rs199474814	MYL2	1.000	0.040	12	110911094	missense variant	C/T	snv			1
rs397516398	MYL2	1.000	0.040	12	110914267	missense variant	C/T	snv			1
rs397516399	MYL2	1.000	0.040	12	110914200	missense variant	C/G;T	snv			1
rs397516406	MYL2	0.925	0.040	12	110911093	missense variant	C/T	snv			1
rs727503296	MYL2	1.000	0.040	12	110911096	missense variant	T/C	snv			1