DisGeNET - a database of gene-disease associations

List of associated variants

Vaso-Occlusive Crisis, C0750151

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs3024731	PROZ	0.925	0.080	13	113164394	intron variant	A/C;T	snv			3
rs3024735	PCID2 ; PROZ	0.925	0.080	13	113165199	intron variant	G/A	snv		0.19	2
rs3024719	PROZ	0.925	0.080	13	113159911	intron variant	G/A;T	snv			2