DisGeNET - a database of gene-disease associations

List of associated variants

Nonsyndromic Deafness, C3711374

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
rs1321703512	SLCO6A1	1.000	0.120	5	102477684	missense variant	A/G	snv	1.2E-05		1
rs1185695012	WHRN	0.925	0.200	9	114403898	missense variant	G/A	snv	4.0E-06		2
rs397517255	WHRN	0.925	0.200	9	114424483	stop gained	G/A	snv			2
rs431905513	DELEC1 ; TNC	0.925	0.120	9	115040947	missense variant	T/A	snv			2
rs752672077	MPZL2	0.925	0.120	11	118263084	frameshift variant	T/-	del	8.1E-04	6.8E-04	2
rs756215789	MPZL2	1.000	0.120	11	118263084	missense variant	T/C	snv	4.0E-06		1
rs765136820	ILDR1	1.000	0.120	3	122001823	missense variant	C/G	snv	1.1E-04	2.8E-05	1
rs387906893	DIABLO	0.925	0.120	12	122216808	missense variant	G/A	snv			2
rs202138002	P2RX2	0.882	0.120	12	132621535	missense variant	G/A;C	snv	1.8E-05		3
rs200089613	HARS2	0.925	0.280	5	140698056	missense variant	G/A;T	snv	8.0E-05; 3.7E-04		2
rs1057519603	LOC105371566 ; MYO15A	0.925	0.120	17	18126856	missense variant	T/C	snv			2
rs878854415	MYO15A ; LOC105371566	0.925	0.120	17	18144495	splice acceptor variant	A/G	snv			2
rs1057519604	LOC105371566 ; MYO15A	0.925	0.120	17	18148937	frameshift variant	G/-	delins			2
rs1057519606	MYO15A	0.925	0.120	17	18159349	splice donor variant	T/C	snv			2
rs1057519601	MYO15A	0.925	0.120	17	18171764	frameshift variant	G/CCAGGCCCGTGCAGCTC	delins			2
rs1057519607	MYO15A	0.925	0.120	17	18178843	frameshift variant	-/C	delins			2
rs370564476	GRAP	1.000	0.120	17	19024372	missense variant	T/A	snv	4.0E-06	1.4E-05	1
rs2274083	GJB2	0.925	0.200	13	20189241	missense variant	T/C	snv	1.5E-02	5.1E-03	3
rs28931593	GJB2	0.776	0.200	13	20189358	missense variant	C/T	snv		7.0E-06	9
rs1064797088	GJB2	0.925	0.120	13	20189446	missense variant	C/T	snv			2
rs72474224	GJB2	0.708	0.440	13	20189473	missense variant	C/A;T	snv	7.7E-03		18
rs35887622	GJB2	0.790	0.200	13	20189481	missense variant	A/C;G	snv	8.7E-03		8
rs2274084	GJB2	0.882	0.240	13	20189503	missense variant	C/T	snv	5.4E-02	2.2E-02	6
rs104894396	GJB2	0.672	0.400	13	20189511	stop gained	C/T	snv	5.8E-04	1.1E-04	28
rs111033293	GJB2	0.763	0.280	13	20189581	start lost	T/A;C	snv	3.6E-05	4.2E-05	10