DisGeNET - a database of gene-disease associations

List of associated variants

PERRAULT SYNDROME 5, C4015307

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
rs754081544	MRPL43 ; TWNK	0.925	0.080	10	100988947	missense variant	A/G	snv	1.6E-05	7.0E-06	5
rs369588002	TWNK	1.000		10	100990470	missense variant	G/A	snv	2.0E-05	1.4E-05	1
rs672601360	TWNK	1.000		10	100993209	missense variant	A/G	snv	4.0E-06	7.0E-06	1
rs672601361	TWNK	1.000		10	100989721	missense variant	T/G	snv	4.0E-06; 8.0E-06	1.4E-05	1
rs556445621	TWNK ; MRPL43	1.000		10	100989382	missense variant	G/A;T	snv	6.4E-05		1
rs759603316	TWNK ; MRPL43	1.000		10	100989084	missense variant	C/A;G	snv	4.0E-06		1