DisGeNET - a database of gene-disease associations

List of associated variants

Hamartoma Syndrome, Multiple, C0018553

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
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	272
rs759834365	BDNF-AS ; BDNF	0.448	0.760	11	27658456	missense variant	C/T	snv	1.2E-05		237
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02		97
rs763780	IL17F	0.531	0.720	6	52236941	missense variant	T/C	snv	6.7E-02	6.6E-02	87
rs1128503	ABCB1	0.564	0.760	7	87550285	synonymous variant	A/G	snv	0.54	0.63	64
rs2066845	NOD2	0.611	0.600	16	50722629	missense variant	G/C;T	snv	1.1E-02; 2.2E-04		46
rs121909224	PTEN	0.627	0.560	10	87933147	stop gained	C/G;T	snv	1.2E-05		41
rs855791	TMPRSS6	0.701	0.400	22	37066896	missense variant	A/G;T	snv	0.57; 4.0E-06		38
rs121913281	PIK3CA	0.623	0.520	3	179234296	missense variant	C/T	snv			37
rs2241880	SCARNA5 ; ATG16L1	0.627	0.600	2	233274722	missense variant	A/G	snv	0.45	0.44	37
rs121909231	PTEN	0.667	0.600	10	87961095	stop gained	C/A;T	snv			32
rs121909218	PTEN	0.672	0.360	10	87933145	missense variant	G/A	snv			25
rs121909219	PTEN	0.689	0.400	10	87957915	stop gained	C/A;T	snv			25
rs121909229	PTEN	0.683	0.400	10	87933148	missense variant	G/A;C;T	snv			23
rs121913293	PTEN	0.732	0.360	10	87952142	missense variant	C/A;T	snv			18
rs1057519942	PIK3CA	0.724	0.320	3	179203760	missense variant	G/A	snv			16
rs121913283	PIK3CA	0.724	0.440	3	179234286	missense variant	G/A;T	snv	4.0E-06		16
rs562015640	PTEN	0.742	0.360	10	87960957	stop gained	A/G;T	snv	1.2E-05		16
rs1861494	IFNG-AS1 ; IFNG	0.716	0.400	12	68157629	intron variant	C/T	snv		0.75	15
rs2201841	C1orf141 ; IL23R	0.716	0.440	1	67228519	intron variant	A/G;T	snv			14
rs121913294	PTEN	0.776	0.280	10	87952143	missense variant	G/A;C;T	snv	8.0E-06		14