DisGeNET - a database of gene-disease associations

List of associated variants

HYPOTRICHOSIS 8, C3279470

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
rs766783183	KRT25	0.925	0.040	17	40750961	missense variant	A/G	snv	3.6E-05	7.0E-06	2
rs121434307	RB1 ; LPAR6	0.925	0.040	13	48411862	missense variant	T/A;C	snv	3.2E-05; 8.0E-06		2
rs121434306	LPAR6 ; RB1	1.000	0.040	13	48411961	stop gained	G/A	snv			1
rs121434308	LPAR6 ; RB1	1.000	0.040	13	48411988	missense variant	C/T	snv	8.6E-06	7.0E-06	1
rs121434309	LPAR6 ; RB1	1.000	0.040	13	48411859	missense variant	C/T	snv	1.2E-05	1.4E-05	1
rs1566212378	LPAR6 ; RB1	1.000	0.040	13	48412050	frameshift variant	TT/-	delins			1
rs879255262	LPAR6 ; RB1	1.000	0.040	13	48412236	missense variant	T/A;C	snv			1
rs115596308	RB1 ; LPAR6	1.000	0.040	13	48411837	missense variant	G/A;C;T	snv	4.0E-06; 4.0E-06		1