DisGeNET - a database of gene-disease associations

List of associated variants

Hamartoma Syndrome, Multiple, C0018553

Source: CLINVAR ×

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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
rs397517108	EGFR ; EGFR-AS1	0.790	0.120	7	55181312	missense variant	GC/TT	mnv			1
rs1554890324	KLLN ; PTEN	1.000	0.080	10	87864470	start lost	A/G	snv			1
rs121909230	PTEN	0.925	0.080	10	87933094	missense variant	T/C	snv			1
rs121913292	PTEN	1.000	0.080	10	87933148	frameshift variant	G/-	del			1
rs1554898161	PTEN	1.000	0.080	10	87933173	stop gained	T/G	snv			1
rs1554900534	PTEN	1.000	0.080	10	87952133	missense variant	A/C;G	snv			1
rs1564566706	PTEN	1.000	0.080	10	87957851	splice acceptor variant	A/G	snv			1
rs1564568689	PTEN	1.000	0.080	10	87961112	frameshift variant	T/-	delins			1
rs1564828909	PTEN	1.000	0.080	10	87931040	splice acceptor variant	TTTTA/-	del			1
rs1564828914	PTEN	1.000	0.080	10	87931044	splice acceptor variant	A/G	snv			1
rs562015640	PTEN	0.742	0.360	10	87960957	stop gained	A/G;T	snv	1.2E-05		1
rs587782343	PTEN	0.851	0.200	10	87933073	missense variant	G/A	snv			1
rs730882131	PTEN	1.000	0.080	10	87957999	stop gained	C/T	snv			1
rs786204862	PTEN	1.000	0.080	10	87952117	splice acceptor variant	G/A	snv			1
rs786204928	PTEN	1.000	0.080	10	87933048	stop gained	C/G;T	snv		7.0E-06	1
rs863224666	PTEN	1.000	0.080	10	87933181	missense variant	A/C;G	snv			1
rs869312776	PTEN	1.000	0.080	10	87933167	missense variant	T/C;G	snv			1
rs869312778	PTEN	1.000	0.080	10	87894063	stop gained	G/T	snv			1
rs869312779	PTEN	1.000	0.080	10	87933183	frameshift variant	C/-	del			1
rs199476086	BMPR1A	0.925	0.120	10	86919316	missense variant	C/A;T	snv			2
rs1064793732	PIK3CA	0.882	0.320	3	179204536	missense variant	G/A	snv			2
rs1060500122	PTEN	1.000	0.080	10	87933204	stop gained	C/T	snv			2
rs1064793243	PTEN	1.000	0.080	10	87933082	missense variant	T/C	snv			2
rs1114167624	PTEN	1.000	0.080	10	87961120	splice donor variant	T/C;G	snv			2
rs121913291	PTEN	0.925	0.080	10	87961055	frameshift variant	A/-;AA	delins			2