DisGeNET - a database of gene-disease associations

List of associated variants

Anemia, Hemolytic, C0002878

Source: CLINVAR ×

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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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	9
rs1554785242	ADAMTS13	0.882	0.160	9	133426240	missense variant	G/T	snv			8
rs1554791280	ADAMTS13	0.882	0.160	9	133442718	missense variant	T/C	snv			8
rs367956522	ATP7B	0.851	0.240	13	51949798	splice acceptor variant	T/C	snv	2.4E-05	7.7E-05	7
rs1565538350	TPI1	0.851	0.200	12	6870074	missense variant	G/A	snv			7
rs1564875331	HBB	0.882	0.120	11	5226724	frameshift variant	CATAA/TGATGCC	delins			4
rs267607201	KLF1	0.807	0.120	19	12885001	missense variant	C/T	snv			2
rs78478128	G6PD	0.851	0.160	X	154536168	missense variant	G/C	snv	1.7E-04	1.1E-04	1
rs137853583	GPI	0.827	0.080	19	34394044	missense variant	G/A;T	snv	1.2E-05; 4.0E-06		1
rs33924146	HBB	1.000	0.040	11	5226765	missense variant	A/C;G	snv			1
rs33966487	HBB	0.925	0.040	11	5226588	missense variant	C/G;T	snv			1
rs863225469	RHAG	0.925	0.120	6	49619338	missense variant	A/C	snv			1
rs121912748	SLC4A1	0.790	0.200	17	44253327	missense variant	C/T	snv	4.0E-05	2.1E-05	1
rs121912751	SLC4A1	0.882	0.200	17	44251241	missense variant	G/T	snv	7.2E-05	2.1E-05	1
rs1555367318	SPTB	1.000	0.040	14	64770879	splice donor variant	ACCTGGGCCTC/-	delins			1