DisGeNET - a database of gene-disease associations

List of associated variants

Generalized amyotrophy, C1389113

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
rs1556425596	COL6A1	0.752	0.240	21	45989967	intron variant	C/T	snv			37
rs781565158	PYROXD1	0.851	0.120	12	21452130	missense variant	A/G	snv	4.7E-05	2.1E-05	22
rs778768583	CAPN3	0.851	0.120	15	42410958	missense variant	G/C	snv	8.0E-06		10
rs886042108	CAPN3	0.851	0.120	15	42409930	splice acceptor variant	G/C;T	snv			10
rs1171462240	MTMR2	0.851	0.160	11	95849784	stop gained	G/A	snv		7.0E-06	6
rs267607087	SPTLC1	0.851	0.120	9	92047261	missense variant	G/A;T	snv			5