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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs12979860	IFNL4	0.547	0.520	19	39248147	intron variant	C/T	snv		0.39	84
rs1127354	ITPA	0.667	0.400	20	3213196	missense variant	C/A;G	snv	7.5E-02		26
rs7270101	ITPA	0.776	0.200	20	3213247	intron variant	A/C	snv	8.7E-02	9.7E-02	10
rs1314386070	DECR1	0.827	0.240	8	90042766	missense variant	T/C	snv		1.4E-05	9
rs121912748	SLC4A1	0.790	0.200	17	44253327	missense variant	C/T	snv	4.0E-05	2.1E-05	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
rs78478128	G6PD	0.851	0.160	X	154536168	missense variant	G/C	snv	1.7E-04	1.1E-04	7
rs267607201	KLF1	0.807	0.120	19	12885001	missense variant	C/T	snv			7
rs1565538350	TPI1	0.851	0.200	12	6870074	missense variant	G/A	snv			7
rs1057520247	BRCA2	0.882	0.200	13	32326591	synonymous variant	C/T	snv		7.0E-06	5
rs374019283	FANCD2	0.882	0.200	3	10039759	synonymous variant	T/C	snv	4.0E-05	2.2E-04	5
rs865862446	FANCD2	0.882	0.200	3	10049416	missense variant	G/A	snv			5
rs200111236	G6PD	0.882	0.200	X	154534463	missense variant	G/A;C	snv	2.8E-04; 5.5E-06		5
rs137853583	GPI	0.827	0.080	19	34394044	missense variant	G/A;T	snv	1.2E-05; 4.0E-06		5
rs769013954	ALDH9A1	0.925	0.120	1	165682137	missense variant	A/G	snv	2.0E-05		4
rs572409834	ALDH9A1 ; LOC440700	0.925	0.120	1	165698515	missense variant	C/T	snv	4.2E-06		4
rs2230294	GPI	0.851	0.080	19	34393927	missense variant	G/A;T	snv	2.0E-04		4
rs1564875331	HBB	0.882	0.120	11	5226724	frameshift variant	CATAA/TGATGCC	delins			4
rs121912751	SLC4A1	0.882	0.200	17	44251241	missense variant	G/T	snv	7.2E-05	2.1E-05	4
rs33966487	HBB	0.925	0.040	11	5226588	missense variant	C/G;T	snv			2