DisGeNET - a database of gene-disease associations

List of associated variants

beta^0^ Thalassemia, C0271980

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
rs11549407	HBB	0.752	0.080	11	5226774	stop gained	G/A;C;T	snv	3.3E-04		11
rs33986703	HBB	0.752	0.080	11	5226970	stop gained	T/A;C;G	snv	5.6E-05; 3.2E-05		11
rs33945777	HBB	0.763	0.080	11	5226576	splice donor variant	C/A;G;T	snv	4.0E-05		10
rs33971440	HBB	0.763	0.080	11	5226929	splice donor variant	C/A;T	snv	7.2E-05; 9.5E-05		10
rs33913413	HBB	0.851	0.080	11	5225729	splice region variant	G/A;C;T	snv	1.2E-05; 4.0E-06		4
rs33922842	HBB	0.882	0.080	11	5226762	stop gained	C/A;G;T	snv	2.8E-04; 4.0E-06		4
rs33941849	HBB	0.851	0.080	11	5227020	start lost	A/C;G;T	snv			4
rs34451549	HBB	0.851	0.080	11	5225923	intron variant	G/A	snv		4.9E-05	4
rs35532010	HBB	0.882	0.080	11	5226937	frameshift variant	G/-;GG	delins			4
rs33974936	HBB	0.925	0.080	11	5226778	stop gained	C/A;T	snv			3
rs34889882	HBB	0.882	0.080	11	5227004	frameshift variant	AG/-	del		7.0E-06	3
rs35456885	HBB	0.925	0.080	11	5226814	non coding transcript exon variant	A/C;G;T	snv			3
rs35497102	HBB	0.882	0.080	11	5226996	frameshift variant	TT/-	del			3
rs35662066	HBB	0.925	0.080	11	5226971	frameshift variant	G/-	del			3
rs35699606	HBB	0.882	0.080	11	5226994	frameshift variant	-/C	delins	2.5E-04	6.3E-05	3
rs63749819	HBB	0.882	0.080	11	5227002	frameshift variant	T/-	del	1.6E-05	2.1E-05	3
rs63750532	HBB	0.925	0.080	11	5226780	frameshift variant	A/-	delins			3
rs63750783	HBB	0.882	0.080	11	5226975	stop gained	C/T	snv	8.8E-05	7.0E-06	3
rs80356821	HBB	0.882	0.080	11	5226763	frameshift variant	AGAA/-	delins			3
rs193922563	HBB	0.925	0.080	11	5226797	splice acceptor variant	GCCTAAGGGTGGGAAAATAGACCAA/-;GCCTAAGGGTGGGAAAATAGACCAAGCCTAAGGGTGGGAAAATAGACCAA	delins			2
rs267607297	HBB	0.925	0.080	11	5226782	frameshift variant	G/-	delins			2
rs281864901	HBB	0.925	0.080	11	5226662	frameshift variant	G/-	del			2
rs33943001	HBB	0.925	0.080	11	5226800	splice acceptor variant	C/G;T	snv	4.0E-06		2
rs33952266	HBB	0.925	0.080	11	5225727	splice acceptor variant	C/A;G;T	snv	7.2E-05		2
rs33969853	HBB	0.925	0.080	11	5226674	frameshift variant	-/T	delins			2