DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Hypertrophic Cardiomyopathy ×

Variants associated to the Gene: RPL36A-HNRNPH2 ×

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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
rs199473684	GLA ; RPL36A-HNRNPH2	0.925	0.160	X	101399747	3 prime UTR variant	C/T	snv			3
rs104894845	GLA ; RPL36A-HNRNPH2	0.807	0.160	X	101401752	missense variant	C/G;T	snv	5.5E-04		2
rs28935197	GLA ; RPL36A-HNRNPH2	0.776	0.280	X	101398942	missense variant	T/C	snv	5.5E-06		2
rs727504348	GLA ; RPL36A-HNRNPH2	0.925	0.160	X	101397982	missense variant	C/T	snv			2
rs398123226	RPL36A-HNRNPH2 ; GLA	0.882	0.160	X	101398403	missense variant	G/C;T	snv			1