DisGeNET - a database of gene-disease associations

List of associated variants

hearing impairment, C1384666

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
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
rs61750420	PEX1	0.689	0.480	7	92501562	missense variant	C/T	snv	3.2E-04	3.5E-04	52
rs5370	EDN1	0.630	0.520	6	12296022	missense variant	G/T	snv	0.23	0.21	37
rs1799883	FABP2	0.658	0.440	4	119320747	missense variant	T/A;C;G	snv	0.73		36
rs370717845	HGSNAT	0.763	0.320	8	43161462	missense variant	G/A	snv			33
rs80338945	GJB2	0.695	0.440	13	20189313	missense variant	A/G	snv	6.4E-04	6.4E-04	32
rs137854889	ZMPSTE24	0.742	0.440	1	40290871	frameshift variant	T/-;TT	delins			31
rs104894396	GJB2	0.672	0.400	13	20189511	stop gained	C/T	snv	5.8E-04	1.1E-04	28
rs180177135	PALB2	0.716	0.520	16	23607891	frameshift variant	T/-	del		2.1E-05	27
rs34757931	VPS11	0.742	0.360	11	119081189	missense variant	T/G	snv	1.2E-04	5.6E-05	26
rs373145711	ASXL1	0.732	0.520	20	32433408	stop gained	C/T	snv	2.0E-05	2.8E-05	25
rs387907141	ARID1B	0.752	0.360	6	157181137	stop gained	C/T	snv			24
rs660339	UCP2	0.695	0.320	11	73978059	missense variant	G/A	snv	0.41	0.43	24
rs28934908	MECP2	0.732	0.280	X	154031409	missense variant	G/A;T	snv	5.5E-06		23
rs587783446	CHD7	0.763	0.280	8	60850546	stop gained	C/T	snv			19
rs72474224	GJB2	0.708	0.440	13	20189473	missense variant	C/A;T	snv	7.7E-03		18
rs1554196416	IRAK1BP1 ; PHIP	0.851	0.200	6	78958551	stop gained	G/A	snv			15
rs529855742	SGSH	0.827	0.320	17	80214291	missense variant	G/A	snv	1.2E-05	1.4E-05	15
rs80338939	GJB2	0.732	0.280	13	20189547	frameshift variant	C/-;CC	delins		6.4E-03	14
rs104894408	GJB2	0.742	0.280	13	20189548	missense variant	C/A;G	snv	5.1E-04		13
rs80338948	GJB2	0.763	0.280	13	20189155	missense variant	G/A	snv	1.2E-04	2.0E-04	12