DisGeNET - a database of gene-disease associations

List of associated variants

Congenital dyserythropoietic anemia, C0002876

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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs2072671	CDA	0.752	0.280	1	20589208	missense variant	A/C	snv	0.28	0.25	16
rs267607201	KLF1	0.807	0.120	19	12885001	missense variant	C/T	snv			7
rs104894324	AICDA	0.882	0.120	12	8606951	missense variant	G/A	snv	4.0E-06		3
rs1182452266	GYG1	0.882	0.120	3	149026904	missense variant	A/G	snv			3
rs121918222	SEC23B	0.882	0.080	20	18510875	missense variant	C/T	snv	2.3E-04	1.7E-04	3
rs942517370	CD44	0.925	0.080	11	35201757	missense variant	G/A	snv	8.0E-06	7.0E-06	2
rs80338699	CDAN1	0.925	0.080	15	42725550	missense variant	G/A	snv	1.6E-05	6.3E-05	2
rs1260625356	ATP8A1	1.000	0.080	4	42579840	missense variant	C/T	snv			1
rs143864225	GPI	1.000	0.080	19	34393941	missense variant	G/A	snv	1.2E-05	2.1E-05	1
rs1327650371	GSR	1.000	0.080	8	30684181	missense variant	T/C	snv	1.2E-05	7.0E-06	1
rs1160011059	KLF1	1.000	0.080	19	12887101	synonymous variant	G/A	snv	4.0E-06		1
rs750888081	SEC23B	1.000	0.080	20	18526476	missense variant	G/A;T	snv	4.0E-06; 8.0E-06		1