DisGeNET - a database of gene-disease associations

List of associated variants

Freeman-Sheldon syndrome, C0265224

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
rs121913619	MYH3	0.882	0.080	17	10650374	missense variant	G/A;T	snv	4.0E-06		4
rs121913623	MYH3	0.882	0.080	17	10648592	missense variant	C/T	snv		7.0E-06	3
rs121913618	MYH3	0.925	0.080	17	10641318	missense variant	G/A	snv			2
rs797045727	MYH3	0.925	0.080	17	10642903	missense variant	A/C	snv			2
rs121913617	MYH3	1.000	0.080	17	10641317	missense variant	C/T	snv			1
rs121913620	MYH3	1.000	0.080	17	10640204	missense variant	A/T	snv			1