DisGeNET - a database of gene-disease associations

List of shared variants

Deafness, Autosomal Recessive 18, C1865870

Disease: USHER SYNDROME, TYPE IC

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
rs151045328	USH1C	0.851	0.200	11	17531431	synonymous variant	C/T	snv	3.6E-05	2.1E-05	5
rs397515359	USH1C	0.827	0.200	11	17531408	frameshift variant	-/G	delins		1.8E-04	5
rs1207247951	USH1C	0.882	0.200	11	17517465	frameshift variant	C/-	delins			3
rs121908370	USH1C	0.882	0.200	11	17533268	stop gained	G/A;C	snv	1.2E-05; 4.0E-05		3
rs1355262412	USH1C	0.882	0.200	11	17524446	splice donor variant	CCTCCAATCCCACCTCA/-	delins		7.0E-06	3
rs397514500	USH1C	0.882	0.200	11	17531233	missense variant	C/A;G;T	snv	8.0E-06; 4.0E-06		3
rs1064797153	USH1C	0.925	0.200	11	17523239	frameshift variant	CTGCGGCT/-	del			2
rs1187887456	USH1C	0.925	0.200	11	17523479	splice acceptor variant	C/A	snv		3.5E-05	2
rs1223763703	USH1C	0.925	0.200	11	17526349	stop gained	G/T	snv		7.0E-06	2
rs1283092935	USH1C	0.925	0.200	11	17526752	splice donor variant	C/G;T	snv			2
rs1287021691	USH1C	0.925	0.200	11	17533254	splice donor variant	C/T	snv		7.0E-06	2
rs1298596518	USH1C	0.925	0.200	11	17526345	splice donor variant	A/C	snv			2
rs1358056232	USH1C	0.925	0.200	11	17501982	splice acceptor variant	T/C	snv	4.0E-06		2
rs138138689	USH1C	0.925	0.200	11	17527222	splice donor variant	C/A;G;T	snv	2.0E-05; 4.0E-06; 2.0E-05		2
rs1465352266	USH1C	0.925	0.200	11	17498273	splice acceptor variant	T/C;G	snv		7.0E-06	2
rs147956944	USH1C	0.925	0.200	11	17521413	splice acceptor variant	T/G	snv	4.0E-06		2
rs1482487617	USH1C	0.925	0.200	11	17531398	splice donor variant	C/T	snv		2.1E-05	2
rs1554953350	USH1C	0.925	0.200	11	17496757	splice donor variant	C/A	snv			2
rs1554953745	USH1C	0.925	0.200	11	17498160	splice donor variant	A/G	snv			2
rs1554953746	USH1C	0.925	0.200	11	17498161	splice donor variant	C/A	snv			2
rs1554954574	USH1C	0.925	0.200	11	17501151	splice acceptor variant	C/T	snv			2
rs1554954681	USH1C	0.925	0.200	11	17501480	splice donor variant	A/G	snv			2
rs1554960388	USH1C	0.925	0.200	11	17520933	frameshift variant	-/T	delins			2
rs1554960390	USH1C	0.925	0.200	11	17520941	frameshift variant	G/-	del			2
rs1554961152	USH1C	0.925	0.200	11	17523418	splice donor variant	C/T	snv			2