DisGeNET - a database of gene-disease associations

List of shared variants

Short stature, C0349588

Disease: hearing impairment

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
rs1554888939	EHMT1	0.683	0.640	9	137798823	missense variant	G/T	snv			58
rs587783446	CHD7	0.763	0.280	8	60850546	stop gained	C/T	snv			19
rs1057519338	AMMECR1	0.882		X	110264571	stop gained	G/A	snv			8
rs1057518799	POGZ	0.925	0.080	1	151430715	frameshift variant	-/GATTGGCA	delins			7
rs1057518908	COL2A1	0.882	0.120	12	47984112	missense variant	C/T	snv			6
rs765498367	LOC105373312 ; AMMECR1	0.925		X	110317643	stop gained	A/G;T	snv	1.2E-04	2.8E-05	6