DisGeNET - a database of gene-disease associations

List of shared variants

hearing impairment, C1384666

Disease: Muscle hypotonia

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
rs387907141	ARID1B	0.752	0.360	6	157181137	stop gained	C/T	snv			24
rs121907966	HEXA	0.882	0.160	15	72345477	missense variant	G/A	snv	4.0E-06	1.4E-05	9
rs1057519464	HEXA	0.925	0.160	15	72347711	missense variant	T/C;G	snv	4.0E-06		7
rs1057519468	HEXA	0.925	0.160	15	72345518	stop gained	C/T	snv	4.0E-06		6
rs121907972	HEXA	0.925	0.160	15	72353130	missense variant	G/A	snv	8.0E-06	1.4E-05	6
rs786204585	HEXA	0.925	0.160	15	72344139	stop gained	G/A	snv		7.0E-06	6
rs878855327	ANKRD11	0.925	0.280	16	89279750	frameshift variant	G/-;GG	delins			5