DisGeNET - a database of gene-disease associations

List of associated variants

alpha^+^ Thalassemia, C1456873

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
rs11886868	BCL11A	0.752	0.280	2	60493111	intron variant	C/T	snv		0.65	12
rs4671393	BCL11A	0.790	0.400	2	60493816	intron variant	A/C;G	snv			11
rs122445108	ATRX	0.807	0.320	X	77717155	stop gained	G/A	snv			7
rs1427407	BCL11A	0.827	0.120	2	60490908	intron variant	T/C;G	snv			6
rs3783613	VCAM1	0.851	0.200	1	100731231	missense variant	G/A;C	snv	4.0E-06; 9.9E-03		6
rs33964317	HBA1	0.925	0.080	16	176759	missense variant	T/A;C;Y	snv	1.7E-04	1.4E-05	3
rs66650371	HBS1L	0.925	0.080	6	135097495	intron variant	CTA/-;CTACTA	delins		0.19	3
rs1265843445	HBA1	0.925	0.080	16	177311	missense variant	T/G	snv	4.0E-06		2
rs28928875	HBA1	0.925	0.080	16	177056	missense variant	G/A;C	snv			2
rs281864810	HBA2	0.925	0.080	16	172955	missense variant	T/A;C	snv			2
rs281864855	HBA2	0.925	0.080	16	173246	missense variant	C/G;T	snv			2
rs41479844	HBA2	0.925	0.080	16	173500	missense variant	T/G	snv			2
rs41328049	HBA2	1.000	0.080	16	173207	missense variant	G/A;C	snv	3.0E-05		1
rs41457746	HBA2	1.000	0.080	16	173123	splice acceptor variant	A/G	snv		3.7E-05	1
rs63751457	HBA2	1.000	0.080	16	172981	synonymous variant	C/T	snv	3.7E-05		1