DisGeNET - a database of gene-disease associations

List of associated variants

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED, C1845055

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
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		96
rs121913499	IDH1	0.605	0.520	2	208248389	missense variant	G/A;C;T	snv			51
rs118101777	IDH2	0.614	0.280	15	90087472	missense variant	C/T	snv	2.0E-03	1.6E-03	42
rs55819519	TP53	0.627	0.400	17	7673751	missense variant	C/A;G;T	snv	1.6E-04	1.3E-04	40
rs398123425	ATRX	0.776	0.320	X	77688876	missense variant	T/C	snv			9
rs1034749666	OLIG2	0.776	0.160	21	33027257	missense variant	G/A	snv			9
rs122445108	ATRX	0.807	0.320	X	77717155	stop gained	G/A	snv			7
rs750893877	TP53	0.807	0.320	17	7674258	synonymous variant	G/A	snv	8.0E-06		7
rs122445099	ATRX	0.827	0.400	X	77520832	stop gained	G/A	snv			6
rs122445101	ATRX	0.882	0.240	X	77558781	missense variant	C/T	snv			3
rs122445105	ATRX	0.882	0.240	X	77684520	missense variant	G/A	snv			3
rs122445103	ATRX	0.925	0.240	X	77688844	missense variant	G/C	snv			2
rs1057518708	ATRX	1.000	0.120	X	77688843	missense variant	G/A	snv			1
rs1057524153	ATRX	1.000	0.120	X	77684527	missense variant	G/C	snv			1
rs1060499658	ATRX	1.000	0.120	X	77589929	missense variant	C/T	snv			1
rs122445093	ATRX	1.000	0.120	X	77633696	missense variant	T/C	snv			1
rs122445094	ATRX	1.000	0.120	X	77633682	missense variant	A/G	snv			1
rs122445095	ATRX	1.000	0.120	X	77633572	missense variant	C/A;T	snv			1
rs122445096	ATRX	1.000	0.120	X	77593702	missense variant	T/A	snv			1
rs122445097	ATRX	1.000	0.120	X	77574326	missense variant	A/G	snv			1
rs122445098	ATRX	1.000	0.120	X	77558685	missense variant	T/C	snv			1
rs122445100	ATRX	1.000	0.120	X	77520826	stop gained	C/A	snv			1
rs122445104	ATRX	1.000	0.120	X	77620442	missense variant	C/T	snv			1