DisGeNET - a database of gene-disease associations

List of associated variants

Congenital myopathy (disorder), C0270960

Source: ALL

Results per page

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
rs1114167361	FLNC	0.827	0.160	7	128845022	missense variant	C/T	snv			6
rs137853306	TPM2	0.882	0.080	9	35689265	missense variant	C/T	snv			6
rs118192168	RYR1	0.882	0.120	19	38580403	missense variant	G/A	snv	1.6E-05	7.0E-06	4
rs104894127	TPM2	0.925	0.080	9	35685750	missense variant	G/C	snv			4
rs786201023	MYHAS ; MYH2	1.000	0.160	17	10523154	missense variant	A/G	snv			3
rs1447246862	RYR1	1.000	0.040	19	38580418	missense variant	G/A	snv			2
rs730880837	MYH7			14	23432689	missense variant	G/A	snv			1
rs1305971341	RYR1			19	38458108	stop gained	G/A	snv	4.0E-06	1.4E-05	1
rs368874586	RYR1			19	38586150	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		1
rs748492214	RYR1			19	38458107	stop gained	G/A	snv			1