DisGeNET - a database of gene-disease associations

List of shared variants

Hermanski-Pudlak Syndrome, C0079504

Disease: HERMANSKY-PUDLAK SYNDROME 2

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
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