DisGeNET - a database of gene-disease associations

List of shared variants

hearing impairment, C1384666

Disease: Global developmental delay

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
rs1554700718	HNRNPK	0.658	0.360	9	83975540	non coding transcript exon variant	T/C	snv			59
rs1554888939	EHMT1	0.683	0.640	9	137798823	missense variant	G/T	snv			58
rs370717845	HGSNAT	0.763	0.320	8	43161462	missense variant	G/A	snv			33
rs104894396	GJB2	0.672	0.400	13	20189511	stop gained	C/T	snv	5.8E-04	1.1E-04	28
rs373145711	ASXL1	0.732	0.520	20	32433408	stop gained	C/T	snv	2.0E-05	2.8E-05	25
rs1060499733	DHX30	0.851	0.120	3	47846757	missense variant	A/G	snv			11
rs1131692230	PDHA1	0.807	0.160	X	19353124	missense variant	A/G	snv			9
rs1057519338	AMMECR1	0.882		X	110264571	stop gained	G/A	snv			8
rs863223330	SIX1 ; MIR9718	0.807	0.280	14	60648629	splice donor variant	C/G	snv			8