DisGeNET - a database of gene-disease associations

List of associated variants

LEOPARD SYNDROME 2, C1969056

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
rs80338796	RAF1	0.667	0.480	3	12604200	missense variant	G/A;C	snv	4.0E-06		37
rs80338797	RAF1	0.827	0.160	3	12584624	missense variant	G/C;T	snv			7
rs121434594	RAF1	0.827	0.160	3	12604189	missense variant	G/A;C;T	snv			5
rs397516830	RAF1	0.827	0.160	3	12604182	missense variant	A/C;G;T	snv			5
rs397516813	RAF1	0.925	0.160	3	12599717	missense variant	C/G	snv			3
rs886039607	RAF1	0.925	0.160	3	12608842	missense variant	C/G	snv			2