DisGeNET - a database of gene-disease associations

List of associated variants

Sensorineural hearing loss, bilateral, C0452138

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
rs1565679039	COL2A1	0.701	0.400	12	47983399	stop gained	T/A	snv			45
rs1555575860	COG4	0.732	0.240	16	70496367	missense variant	C/G;T	snv			31
rs527656756	MTA3 ; HAAO	0.716	0.400	2	42770143	frameshift variant	-/A	delins	1.7E-05	1.4E-05	21
rs80338939	GJB2	0.732	0.280	13	20189547	frameshift variant	C/-;CC	delins		6.4E-03	14
rs398122965	TBC1D24	0.807	0.280	16	2496872	missense variant	C/T	snv	1.2E-05	2.8E-05	13
rs397507478	BRAF	0.790	0.440	7	140777014	missense variant	C/A	snv			12
rs80338950	GJB2	0.752	0.280	13	20189031	missense variant	C/G;T	snv	6.0E-05		12
rs398122967	TBC1D24	0.827	0.280	16	2498262	frameshift variant	T/-	del	7.4E-05	4.9E-05	12
rs1554887097	MRPL43 ; TWNK	0.807	0.320	10	100989331	missense variant	G/A	snv			10
rs797044484	TP63	0.776	0.400	3	189868624	missense variant	C/G	snv			10
rs864309499	ACO2 ; POLR3H	0.827	0.240	22	41526319	missense variant	C/T	snv	4.0E-06		9
rs375761361	POLR3H ; ACO2	0.827	0.240	22	41527949	missense variant	C/G;T	snv	4.0E-06; 3.6E-05		9
rs201257588	TBC1D24	0.882	0.280	16	2496206	stop gained	C/G;T	snv	6.0E-05		9
rs398122966	TBC1D24	0.882	0.280	16	2496266	missense variant	C/T	snv	8.0E-06		9
rs398122968	TBC1D24	0.882	0.280	16	2499425	splice region variant	G/A	snv			9
rs747821285	TBC1D24	0.882	0.280	16	2496476	missense variant	G/A	snv	4.1E-06		9
rs760474458	TBC1D24	0.882	0.280	16	2496267	missense variant	G/A;C;T	snv	4.0E-06; 2.0E-05; 4.0E-06		9
rs797044548	TBC1D24	0.882	0.280	16	2498253	missense variant	G/T	snv			9
rs137853066	KCNJ10	0.827	0.320	1	160042339	missense variant	C/G;T	snv	8.0E-06		7
rs28938175	COCH ; LOC100506071	0.851	0.120	14	30877640	missense variant	C/T	snv	4.0E-06		6
rs1564405163	GATA3	0.807	0.280	10	8073746	missense variant	G/C	snv			6
rs1555783467	SLC52A3	0.882	0.120	20	761120	missense variant	C/T	snv			6
rs1556445736	COL4A5	0.925	0.200	X	108667167	synonymous variant	A/G	snv			5
rs104894401	GJB2	0.851	0.120	13	20189154	missense variant	C/T	snv			4
rs138490803	COQ7	0.925	0.120	16	19074000	missense variant	T/C	snv	8.0E-06	7.0E-06	3