DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Gene: PIK3R1 ×

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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
rs1057519841	PIK3R1	0.925	0.120	5	68295269	missense variant	A/G	snv		5
rs1057519757	PIK3R1	0.882	0.120	5	68293310	missense variant	G/A;C	snv		5
rs1057519838	PIK3R1	0.882	0.160	5	68293790	stop gained	C/T	snv		4
rs397515453	PIK3R1	0.752	0.440	5	68296301	missense variant	C/T	snv		3
rs587777709	PIK3R1	0.882	0.160	5	68293835	splice donor variant	G/A;C;T	snv		3
rs1561299903	PIK3R1	0.882	0.160	5	68295287	frameshift variant	-/T	delins		3
rs1057519842	PIK3R1			5	68295304	inframe deletion	CGA/-	delins		1
rs1057519840	PIK3R1			5	68295257	inframe deletion	GACAAACGTATGAACAGC/-	del		1
rs1057519839	PIK3R1			5	68295257	missense variant	G/T	snv		1
rs773686816	PIK3R1			5	68295271	missense variant	C/A;G;T	snv	4.0E-06	1
rs1131692243	PIK3R1			5	68295419	splice region variant	GGT/-	delins		1
rs1131692242	PIK3R1			5	68293722	inframe deletion	AGA/-	delins		1
rs515726151	PIK3R1	1.000	0.160	5	68296327	stop gained	T/G	snv		1
rs397514047	PIK3R1	1.000	0.160	5	68294575	missense variant	G/A	snv		1
rs515726149	PIK3R1	1.000	0.160	5	68296248	missense variant	G/A	snv		1
rs398122384	PIK3R1	1.000	0.160	5	68296298	frameshift variant	-/T	delins		1
rs515726150	PIK3R1	1.000	0.160	5	68296260	frameshift variant	AA/-	delins		1
rs587784325	PIK3R1	1.000	0.160	5	68293187	missense variant	C/T	snv		1
rs797045063	PIK3R1	1.000	0.160	5	68294570	missense variant	T/C	snv		1
rs398122385	PIK3R1	1.000	0.160	5	68296262	frameshift variant	-/C	ins		1
rs397509384	PIK3R1	1.000		5	68280983	stop gained	G/A	snv		1
rs1554051075	PIK3R1	1.000		5	68293836	splice donor variant	T/A;G	snv		1
rs1554051033	PIK3R1	1.000		5	68293708	splice acceptor variant	G/C	snv		1
rs1554051067	PIK3R1	1.000		5	68293835	splice donor variant	TG/-	delins		1