DisGeNET - a database of gene-disease associations

List of shared variants

Congenital Fiber Type Disproportion, C0546264

Disease: Myopathies, Nemaline

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
rs104894129	TPM2	0.851	0.120	9	35685672	missense variant	C/T	snv			4
rs121964852	TPM3	0.851	0.080	1	154172971	missense variant	C/T	snv			4