DisGeNET - a database of gene-disease associations

List of associated variants

Ichthyosiform Erythroderma, Congenital, C0079583

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
rs1569044747	IL2RB	0.882	0.120	22	37139219	stop gained	G/A	snv			5
rs1554162524	ELOVL4	0.882	0.160	6	79925034	splice acceptor variant	T/C	snv			4
rs531650682	TGM1	0.851	0.080	14	24261776	missense variant	G/A;C	snv	5.6E-05	9.1E-05	4
rs397514532	ALOX12B	0.882	0.080	17	8075607	missense variant	G/A	snv	2.0E-05	2.8E-05	3
rs318240748	TGM1	0.882	0.080	14	24260459	missense variant	A/C	snv			3
rs757658720	TGM1	0.882	0.080	14	24249451	missense variant	G/A;T	snv	4.0E-06		3
rs1182312612	PNPLA1	0.925	0.080	6	36270559	missense variant	G/A;C	snv	2.6E-05; 6.5E-06		2
rs1554138062	PNPLA1	0.925	0.080	6	36294331	missense variant	T/C	snv			2
rs369445146	PNPLA1	0.925	0.080	6	36291449	missense variant	C/A	snv	4.0E-06	1.4E-05	2
rs781053760	PNPLA1	0.925	0.080	6	36291532	missense variant	T/C	snv	8.2E-06	2.6E-05	2
rs35312232	TGM1	0.925	0.080	14	24255457	missense variant	C/A;T	snv	4.0E-06; 1.1E-02		2