DisGeNET - a database of gene-disease associations

List of shared variants

Congenital Fiber Type Disproportion, C0546264

Disease: Central Core Myopathy (disorder)

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
rs111436401	RYR1	0.851	0.160	19	38523116	splice donor variant	G/A	snv	4.0E-06		4
rs118192140	RYR1	0.851	0.160	19	38573304	missense variant	C/T	snv	4.4E-05	4.2E-05	4
rs193922837	RYR1	0.851	0.160	19	38523211	splice region variant	C/G	snv	2.0E-05	9.8E-05	4
rs377178986	RYR1	0.851	0.160	19	38543420	stop gained	C/A	snv	2.4E-05	3.5E-05	4
rs118192117	RYR1	0.882	0.160	19	38451846	missense variant	T/C	snv	4.0E-06		3
rs367543058	RYR1	0.882	0.160	19	38519399	missense variant	T/G	snv	2.2E-05	4.9E-05	3