DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: USHER SYNDROME, TYPE IIA ×

Variants associated to the Gene: USH2A ×

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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
rs201527662	USH2A	0.827	0.200	1	216246592	missense variant	A/C	snv	2.1E-04	6.3E-05	5
rs111033364	USH2A	0.807	0.200	1	215728232	stop gained	C/T	snv	9.2E-05	1.2E-04	7
rs397517978	USH2A	0.882	0.200	1	215680378	splice acceptor variant	T/C	snv	8.4E-05	1.4E-05	3
rs369522997	USH2A	0.882	0.200	1	216325412	missense variant	T/G	snv	6.8E-05	5.6E-05	3
rs201386640	USH2A	1.000	0.200	1	215965376	missense variant	C/G;T	snv	6.4E-05		1
rs143344549	USH2A	1.000	0.200	1	215648657	missense variant	G/A	snv	6.4E-05	1.2E-04	1
rs121912599	USH2A	0.925	0.200	1	216325492	missense variant	C/T	snv	6.0E-05		2
rs746551311	LOC105372918 ; USH2A	0.882	0.200	1	216196582	stop gained	G/A	snv	6.0E-05	7.0E-06	3
rs765306173	USH2A	1.000	0.200	1	215743193	missense variant	T/C	snv	6.0E-05	1.4E-05	1
rs397518043	USH2A	0.851	0.200	1	216325524	frameshift variant	-/GCTG	delins	4.0E-06; 5.6E-05	5.6E-05	4
rs397517963	USH2A	0.882	0.200	1	216325448	missense variant	G/A;C	snv	5.6E-05		3
rs527236139	USH2A	0.882	0.200	1	215759735	missense variant	C/A;T	snv	4.0E-06; 5.6E-05		3
rs373599651	USH2A	1.000	0.200	1	216175335	missense variant	G/A	snv	4.8E-05	7.0E-06	1
rs201238640	USH2A	0.925	0.200	1	215674637	missense variant	G/A	snv	4.4E-05	4.2E-05	2
rs764182950	USH2A	0.925	0.200	1	215799050	missense variant	G/A	snv	4.4E-05	7.0E-06	2
rs121912600	USH2A	0.925	0.200	1	216324240	missense variant	C/A	snv	4.0E-05	7.7E-05	2
rs771583281	USH2A	0.882	0.200	1	216250898	splice region variant	C/T	snv	4.0E-05	8.4E-05	3
rs547581739	LOC105372918 ; USH2A	1.000	0.200	1	216207413	missense variant	G/A	snv	4.0E-05	7.0E-06	1
rs536593247	USH2A	0.925	0.200	1	215838016	frameshift variant	GT/-	delins	4.0E-05	1.6E-04	2
rs368049814	USH2A	0.851	0.200	1	215786715	missense variant	C/T	snv	3.6E-05	7.7E-05	4
rs397518026	USH2A	0.882	0.200	1	216365084	missense variant	A/C;T	snv	4.0E-06; 3.2E-05		3
rs750396156	USH2A	0.882	0.200	1	215675337	missense variant	G/A	snv	3.2E-05	3.5E-05	3
rs397518039	USH2A	0.851	0.200	1	215877882	splice acceptor variant	T/C	snv	3.2E-05		5
rs111033272	USH2A	0.851	0.200	1	216325499	missense variant	G/A;T	snv	4.0E-06; 2.8E-05		7
rs111033379	USH2A	0.925	0.200	1	215782873	stop gained	G/A;T	snv	2.8E-05; 4.0E-06		2