DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: beta Thalassemia ×

Variants associated to the Gene: HBB ×

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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
rs33941377	HBB	0.752	0.080	11	5227158	5 prime UTR variant	G/A;C;T	snv			12
rs33944208	HBB	0.752	0.080	11	5227159	5 prime UTR variant	G/A;C;T	snv			12
rs33915217	HBB	0.752	0.080	11	5226925	splice region variant	C/A;G;T	snv	4.0E-06; 5.9E-04; 4.0E-06		11
rs35004220	HBB	0.752	0.080	11	5226820	non coding transcript exon variant	C/T	snv	1.6E-04	9.1E-05	11
rs11549407	HBB	0.752	0.080	11	5226774	stop gained	G/A;C;T	snv	3.3E-04		10
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
rs33986703	HBB	0.752	0.080	11	5226970	stop gained	T/A;C;G	snv	5.6E-05; 3.2E-05		10
rs34690599	HBB	0.763	0.080	11	5225832	intron variant	G/C	snv		2.8E-05	10
rs35724775	HBB	0.763	0.080	11	5226924	splice region variant	A/G;T	snv	1.2E-04		10
rs33950507	HBB	0.807	0.080	11	5226943	stop gained	C/A;G;T	snv	2.5E-04		7
rs35256489	HBB	0.827	0.080	11	5225710	missense variant	A/G	snv	4.0E-06	2.1E-05	5
rs35424040	HBB	0.827	0.080	11	5226940	missense variant	C/A;G;T	snv	1.2E-05		5
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
rs33946267	HBB	0.851	0.080	11	5225678	stop gained	C/A;G;T	snv	7.0E-04; 1.2E-05		4
rs33978907	HBB	0.851	0.080	11	5225488	3 prime UTR variant	A/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
rs33951465	HBB	0.882	0.080	11	5226947	splice region variant	A/C;T	snv	4.0E-06		3
rs33960103	HBB	0.882	0.080	11	5226930	missense variant	C/G;T	snv	1.0E-04; 8.0E-06		3
rs33972047	HBB	0.851	0.080	11	5226963	missense variant	T/C	snv			3
rs33974936	HBB	0.925	0.080	11	5226778	stop gained	C/A;T	snv			3
rs33985472	HBB	0.925	0.080	11	5225485	3 prime UTR variant	T/C	snv			3