DisGeNET - a database of gene-disease associations

List of associated variants

X-linked myopathy with excessive autophagy, C1839615

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
rs150516929	CRYAB	0.807	0.240	11	111908832	missense variant	C/T	snv	9.1E-04	8.7E-04	8
rs1556035617	VMA21	1.000	0.120	X	151405071	3 prime UTR variant	CTTTTTATAGCATTAAATTCATTTTTTAAAATGATAAATGCTGGAGGGGGCCATCTGATTTGAATAAAGTTGAAAGAACATGTTAAAGTCAG/-	del			1
rs797044909	VMA21	1.000	0.120	X	151403744	splice region variant	A/G	snv			1
rs878854352	VMA21	1.000	0.120	X	151403604	intron variant	A/C;T	snv			1
rs878854353	VMA21	1.000	0.120	X	151404909	splice region variant	T/G	snv			1
rs878854354	VMA21	1.000	0.120	X	151405024	missense variant	G/C	snv			1
rs878854355	VMA21	1.000	0.120	X	151405064	3 prime UTR variant	A/G	snv	5.5E-06		1
rs878854356	VMA21	1.000	0.120	X	151404910	splice region variant	T/G	snv			1
rs878854357	VMA21	1.000	0.120	X	151403611	splice region variant	GTTTACTTT/-	delins			1