DisGeNET - a database of gene-disease associations

List of associated variants

Anemia, Hemolytic, C0002878

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
rs863225469	RHAG	0.925	0.120	6	49619338	missense variant	A/C	snv			2
rs33917785	HBB	1.000	0.040	11	5226617	missense variant	A/C;G	snv			1
rs33924146	HBB	1.000	0.040	11	5226765	missense variant	A/C;G	snv			1
rs33926796	HBB	1.000	0.040	11	5226767	missense variant	A/C;G;T	snv			1
rs534283978	PIEZO1	1.000	0.040	16	88722592	missense variant	G/A	snv	5.1E-04	5.7E-04	1
rs1555367318	SPTB	1.000	0.040	14	64770879	splice donor variant	ACCTGGGCCTC/-	delins			1