DisGeNET - a database of gene-disease associations

List of associated variants

Mental Retardation, X-Linked 19, C0796225

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
rs1555924331	RPS6KA3	0.925	0.080	X	20155436	missense variant	G/A	snv			2
rs1569190602	RPS6KA3	0.925	0.080	X	20161758	frameshift variant	G/-	del			2
rs1569216119	RPS6KA3	0.925	0.080	X	20187953	missense variant	C/T	snv			2
rs869320705	RPS6KA3	0.925	0.080	X	20177017	stop gained	G/A	snv			2
rs122454129	RPS6KA3	1.000	0.080	X	20175244	missense variant	G/A	snv			1
rs144984628	RPS6KA3	1.000	0.080	X	20155453	missense variant	C/T	snv	1.5E-03	1.3E-03	1
rs387906703	RPS6KA3	1.000	0.080	X	20195128	missense variant	T/A	snv			1
rs398122813	RPS6KA3	1.000	0.080	X	20194215	inframe deletion	TCC/-	delins			1
rs797045920	RPS6KA3	1.000	0.080	X	20172792	frameshift variant	AACA/-	delins			1