DisGeNET - a database of gene-disease associations

List of shared variants

Hermanski-Pudlak Syndrome, C0079504

Disease: HERMANSKY-PUDLAK SYNDROME 3

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
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
rs397507168	CP ; HPS3	0.925	0.200	3	149163840	splice acceptor variant	A/G	snv	8.0E-06		2