DisGeNET - a database of gene-disease associations

List of associated variants

Sensorineural Hearing Loss (disorder), C0018784

Source: CURATED ×

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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
rs104894403	GJB2	0.851	0.240	13	20189386	missense variant	C/A;G;T	snv	4.0E-06		4
rs104894409	GJB2	0.827	0.120	13	20189332	missense variant	C/A;G;T	snv	1.6E-05; 3.6E-05; 4.0E-06		4
rs28931593	GJB2	0.776	0.200	13	20189358	missense variant	C/T	snv		7.0E-06	4
rs1302739538	GJB2	0.882	0.120	13	20189066	stop gained	C/G;T	snv			3
rs35887622	GJB2	0.790	0.200	13	20189481	missense variant	A/C;G	snv	8.7E-03		3
rs1057517491	GJB2	0.776	0.240	13	20189448	frameshift variant	C/-	delins			2
rs397516875	GJB2	0.925	0.120	13	20189197	stop gained	C/A;T	snv	6.4E-05		2
rs72561723	GJB2	0.790	0.240	13	20189448	missense variant	C/T	snv	8.0E-06		2
rs750188782	GJB2	0.882	0.200	13	20189391	frameshift variant	ACACGTTCTTGCAGCC/-	delins	1.2E-05		2
rs104894404	GJB2	0.882	0.200	13	20189406	missense variant	C/G;T	snv			1
rs1291519904	GJB2	0.925	0.120	13	20189325	missense variant	G/A;C	snv	4.0E-06; 4.0E-06		1
rs1135401743	HAAO ; MTA3	0.776	0.320	2	42769785	stop gained	C/A;T	snv	4.0E-06		11
rs201650281	KARS1	0.827	0.200	16	75635982	missense variant	G/A	snv	1.4E-04	1.3E-04	6
rs1567498374	KARS1	0.882	0.160	16	75630493	frameshift variant	G/-;GG	delins			5
rs1057516039	KMT2D	0.882	0.280	12	49029400	splice donor variant	C/T	snv			5
rs763320093	LMX1A-AS2 ; LMX1A	1.000	0.120	1	165203923	missense variant	A/G	snv	1.6E-05	1.4E-05	1
rs104894334	LOC101927318 ; AQP2	0.851	0.200	12	49954233	missense variant	G/A	snv	5.3E-05	7.7E-05	2
rs794726869	MARS2	0.925	0.120	2	197705955	stop gained	C/T	snv		7.0E-06	1
rs80338826	MYH9	0.827	0.320	22	36305985	missense variant	G/A	snv			2
rs80338827	MYH9	0.882	0.320	22	36305984	missense variant	C/T	snv		7.0E-06	2
rs80338828	MYH9	0.851	0.200	22	36305975	missense variant	C/T	snv			2
rs80338829	MYH9	0.851	0.200	22	36295069	missense variant	G/A	snv			2
rs80338834	MYH9	0.925	0.160	22	36284474	missense variant	C/T	snv			2
rs80338830	MYH9	0.925	0.160	22	36295068	missense variant	C/A	snv			1
rs372466080	MYO15A	0.925	0.120	17	18166434	synonymous variant	C/T	snv	1.9E-04	1.0E-04	2