DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Waardenburg Syndrome Type 1 ×

Variants associated to the Gene: PAX3 ×

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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
rs1189463428	CCDC140 ; PAX3	1.000	0.040	2	222297003	missense variant	C/T	snv			1
rs1356246522	CCDC140 ; PAX3	1.000	0.040	2	222297089	stop gained	G/A;T	snv	4.0E-06		1
rs1553593928	CCDC140 ; PAX3	1.000	0.040	2	222297081	missense variant	G/A	snv			1
rs1553593965	CCDC140 ; PAX3	1.000	0.040	2	222297139	inframe deletion	GTTGGGCAGCGG/-	delins			1
rs1553594009	CCDC140 ; PAX3	1.000	0.040	2	222297162	frameshift variant	-/T	delins			1
rs1559320252	CCDC140 ; PAX3	1.000	0.040	2	222297018	frameshift variant	AGTCTCCTGGTACC/-	delins			1
rs1559320436	CCDC140 ; PAX3	1.000	0.040	2	222297097	inframe deletion	GGATGCCGTGGTGGGCCA/-	del			1
rs587776586	CCDC140 ; PAX3	1.000	0.040	2	222297057	missense variant	C/G	snv			1
rs777297575	CCDC140 ; PAX3	1.000	0.040	2	222297053	stop gained	G/A;C;T	snv	4.0E-06		1
rs1020175890	LOC107985991 ; PAX3	1.000	0.040	2	222221362	missense variant	C/T	snv			1
rs1379006499	PAX3	1.000	0.040	2	222294310	intron variant	G/A;T	snv		7.0E-06	1
rs147111779	PAX3	1.000	0.040	2	222202134	stop gained	G/A;C	snv	2.8E-05	2.1E-05	1
rs1553568831	PAX3	1.000	0.040	2	222201988	frameshift variant	-/TGTA	delins			1
rs1553575157	PAX3	1.000	0.040	2	222232079	missense variant	T/G	snv			1
rs1553575159	PAX3	1.000	0.040	2	222232080	stop gained	G/A	snv			1
rs1553575179	PAX3	1.000	0.040	2	222232131	frameshift variant	AATGTCAGGGTAA/-	delins			1
rs1553575191	PAX3	1.000	0.040	2	222232178	missense variant	A/G	snv			1
rs1553592703	PAX3	1.000	0.040	2	222294222	frameshift variant	-/AG	ins			1
rs1553592713	PAX3	1.000	0.040	2	222294228	frameshift variant	-/T	delins			1
rs1553592757	PAX3	1.000	0.040	2	222294269	frameshift variant	ATT/TA	delins			1
rs1553592766	PAX3	1.000	0.040	2	222294289	frameshift variant	C/-	del			1
rs1559316535	PAX3	1.000	0.040	2	222294194	frameshift variant	GT/-	delins			1
rs1559316542	PAX3	1.000	0.040	2	222294197	frameshift variant	G/-	del			1
rs1559318562	PAX3	1.000	0.040	2	222295610	frameshift variant	CTTTT/-	delins			1
rs369886550	PAX3	1.000	0.040	2	222202087	stop gained	G/A;C;T	snv	2.0E-05; 4.0E-06		1