DisGeNET - a database of gene-disease associations

List of associated variants

Coffin-Lowry syndrome, C0265252

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	Num. diseases
rs1555939456	RPS6KA3	0.851	0.200	X	20187956	missense variant	T/C	snv		21
rs1057518853	RPS6KA3	0.882	0.120	X	20161641	splice donor variant	-/A	delins		3
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
rs1160828151	RPS6KA3	1.000	0.080	X	20172791	stop gained	G/A;T	snv	5.7E-06	1
rs122454124	RPS6KA3	1.000	0.080	X	20209307	missense variant	C/A	snv		1
rs122454125	RPS6KA3	1.000	0.080	X	20187923	missense variant	A/C	snv		1
rs122454126	RPS6KA3	1.000	0.080	X	20204103	missense variant	C/A;T	snv		1
rs122454127	RPS6KA3	1.000	0.080	X	20195131	missense variant	G/A	snv		1
rs122454128	RPS6KA3	1.000	0.080	X	20156144	stop gained	G/A	snv		1
rs122454130	RPS6KA3	1.000	0.080	X	20193514	missense variant	A/T	snv		1
rs122454131	RPS6KA3	1.000	0.080	X	20186338	missense variant	A/G	snv		1
rs1325953089	RPS6KA3	1.000	0.080	X	20188499	missense variant	G/A;T	snv		1
rs1555924704	RPS6KA3	1.000	0.080	X	20156245	frameshift variant	A/-	del		1
rs1555927532	RPS6KA3	1.000	0.080	X	20164901	missense variant	C/G	snv		1
rs1555939331	RPS6KA3	1.000	0.080	X	20187827	splice donor variant	C/G	snv		1
rs1555943479	RPS6KA3	1.000	0.080	X	20195137	stop gained	G/A	snv		1
rs1555943484	RPS6KA3	1.000	0.080	X	20195143	stop gained	G/A	snv		1
rs1555943492	RPS6KA3	1.000	0.080	X	20195144	frameshift variant	A/-	delins		1
rs28935171	RPS6KA3	1.000	0.080	X	20155435	missense variant	C/T	snv		1
rs398124177	RPS6KA3	1.000	0.080	X	20187971	splice acceptor variant	C/G;T	snv		1
rs587776755	RPS6KA3	1.000	0.080	X	20195146	splice acceptor variant	C/G	snv		1
rs879027948	RPS6KA3	1.000	0.080	X	20187928	missense variant	G/A	snv		1