DisGeNET - a database of gene-disease associations

List of associated variants

Thalassemia Intermedia, C0271979

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
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187
rs9389268	HBS1L	1.000	0.080	6	135098493	intron variant	A/G	snv		0.24	6
rs1283391088	HBA1	0.882	0.120	16	176755	synonymous variant	C/T	snv		1.4E-05	4
rs33925391	HBB	0.882	0.080	11	5225662	missense variant	A/C;G;T	snv	4.0E-06		4
rs33972047	HBB	0.851	0.080	11	5226963	missense variant	T/C	snv			4
rs35802118	HBB	0.925	0.080	11	5226967	missense variant	C/A;T	snv			2
rs63750022	HBB	0.925	0.080	11	5225662	frameshift variant	A/-	del			2
rs34362537	HBB	1.000	0.080	11	5226677	missense variant	A/G	snv			1