DisGeNET - a database of gene-disease associations

List of associated variants

MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, C4084823

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
rs137852801	CHRNA1	0.925	0.120	2	174754242	missense variant	C/T	snv			2
rs137852803	CHRNA1	1.000		2	174750143	missense variant	C/A;G;T	snv	2.8E-05; 4.0E-06; 8.0E-06		2
rs137852798	CHRNA1	1.000		2	174753570	missense variant	G/A;C;T	snv	1.6E-05		1
rs137852799	CHRNA1	1.000		2	174754233	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06; 2.0E-05		1
rs137852800	CHRNA1	1.000		2	174750127	missense variant	G/A	snv			1
rs137852802	CHRNA1	1.000		2	174750082	missense variant	C/A	snv			1
rs137852808	CHRNA1	1.000		2	174748184	missense variant	G/A;C	snv	8.0E-06		1
rs483353046	CHRNA1	1.000		2	174753544	missense variant	G/A;T	snv			1