DisGeNET - a database of gene-disease associations

List of associated variants

MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder), C0796244

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
rs387906492	ARX	0.882	0.160	X	25013660	inframe insertion	CGCCGCCGCCGCCGCCGC/-;CGC;CGCCGC;CGCCGCCGC;CGCCGCCGCCGC;CGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC	delins			3
rs387906493	ARX	0.882	0.120	X	25013544	inframe insertion	GGCCGCGGCTGCCGCGGCGGCCCC/-;GGCCGCGGCTGCCGCGGCGGCCCCGGCCGCGGCTGCCGCGGCGGCCCC	delins			3
rs398124510	ARX	0.882	0.160	X	25013531	inframe insertion	GCGGCCGCGGCTGCCGCGGCGGCC/-;GCGGCCGCGGCTGCCGCGGCGGCCGCGGCCGCGGCTGCCGCGGCGGCC	delins		6.8E-04	3
rs1556056154	ARX	0.925	0.080	X	25013536	inframe insertion	-/GCCGCGGCCGCGGCTGCCGCGGCGGCCCCTGCG	delins			2
rs1569394026	ARX	1.000	0.080	X	25007176	frameshift variant	AGCGGCGCCC/-	delins			1
rs28935479	ARX	1.000	0.080	X	25013139	missense variant	C/T	snv	6.5E-06		1
rs28936077	ARX	1.000	0.080	X	25015640	missense variant	A/G	snv			1