DisGeNET - a database of gene-disease associations

List of associated variants

Hyperkeratosis lenticularis perstans, C0263420

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
rs11542041	APOE	0.677	0.480	19	44908690	missense variant	C/A;T	snv		2.1E-05	23
rs5742904	APOB	0.689	0.280	2	21006288	missense variant	C/A;T	snv	2.8E-04	7.3E-04	22
rs118204057	LPL	0.732	0.400	8	19954222	missense variant	G/A;C	snv	1.9E-04		16
rs198389	NPPB	0.776	0.240	1	11859214	upstream gene variant	A/G	snv		0.39	10
rs573658040	APOE	0.790	0.200	19	44908705	missense variant	C/G;T	snv	6.3E-06		9
rs769455	APOE	0.827	0.120	19	44908783	missense variant	C/T	snv	1.4E-03	6.9E-03	8
rs879254693	LDLR	0.807	0.160	19	11107424	missense variant	T/A;C;G	snv			7
rs387906567	APOE	0.882	0.200	19	44908774	missense variant	C/G;T	snv	6.3E-06		4
rs198388	NPPB	0.851	0.160	1	11857283	downstream gene variant	C/G;T	snv			4
rs632793		0.882	0.120	1	11850620	upstream gene variant	A/G	snv		0.45	3
rs121918397	APOE	0.882	0.200	19	44908784	missense variant	G/A;C	snv	6.5E-06		3