DisGeNET - a database of gene-disease associations

List of associated variants

Hermanski-Pudlak Syndrome, C0079504

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
rs119471022	HPS4	0.925	0.200	22	26470774	stop gained	G/A;T	snv			3
rs121908904	AP3B1	0.925	0.200	5	78129219	missense variant	A/C	snv			2
rs121908906	AP3B1	0.925	0.200	5	78141268	stop gained	G/A	snv			2
rs121908907	AP3B1	0.925	0.200	5	78116228	stop gained	C/A	snv			2
rs1554072100	AP3B1	0.925	0.200	5	78165610	splice acceptor variant	GAAATTCTCGAAGAAGAGTTGATATGTTGGCTTCATTTGCCAAGTTTGTCAAAATTTCAAGCT/-	delins			2
rs281865116	BLOC1S3 ; MARK4 ; TRAPPC6A	0.925	0.200	19	45179742	frameshift variant	C/-	delins			2
rs201348482	BLOC1S6	0.925	0.200	15	45603107	stop gained	C/T	snv	2.0E-05	1.4E-05	2
rs397507168	CP ; HPS3	0.925	0.200	3	149163840	splice acceptor variant	A/G	snv	8.0E-06		2
rs104893945	DTNBP1	0.925	0.200	6	15627391	stop gained	G/A	snv	3.6E-05	1.4E-05	2
rs121908385	HPS1	0.925	0.200	10	98417671	stop gained	C/A;T	snv	8.0E-06		2
rs121908386	HPS1	0.925	0.200	10	98435273	stop gained	C/A;T	snv	3.6E-05		2
rs281865077	HPS1	0.925	0.200	10	98435267	splice region variant	C/G;T	snv	4.0E-06		2
rs281865081	HPS1	0.925	0.200	10	98427240	frameshift variant	C/-;CC	delins			2
rs281865082	HPS1	0.925	0.200	10	98427230	frameshift variant	G/-;GG	delins		1.3E-04	2
rs281865084	HPS1	0.925	0.200	10	98425687	frameshift variant	G/-	delins	7.2E-05	1.2E-04	2
rs281865089	HPS1	0.925	0.200	10	98420153	stop gained	C/G;T	snv	4.0E-06		2
rs281865090	HPS1	0.925	0.200	10	98417664	missense variant	A/G	snv			2
rs281865163	HPS1	0.925	0.200	10	98423797	frameshift variant	-/CTCCCCTGCTGGGGGC	delins	2.8E-05	3.6E-04	2
rs121908316	HPS3	0.925	0.200	3	149150624	missense variant	C/T	snv	3.6E-05	1.4E-05	2
rs201227603	HPS3	0.925	0.200	3	149145547	splice donor variant	G/A	snv	8.0E-05	4.9E-05	2
rs281865093	HPS3	0.925	0.200	3	149157533	splice donor variant	T/G	snv			2
rs281865095	HPS3 ; CP	0.925	0.200	3	149163950	splice donor variant	G/A;C;T	snv	4.0E-06; 4.0E-06; 1.2E-05		2
rs119471021	HPS4	0.925	0.200	22	26457923	stop gained	G/A	snv			2
rs119471023	HPS4	0.925	0.200	22	26468571	stop gained	G/A;C	snv	3.6E-05; 4.0E-06		2
rs119471024	HPS4	0.925	0.200	22	26472391	stop gained	C/A	snv			2