DisGeNET - a database of gene-disease associations

List of associated variants

Telangiectasia, Hereditary Hemorrhagic, Type 1, C4551861

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
rs759191907	LOC105379841 ; ENG	0.776	0.360	9	127825225	splice region variant	A/G	snv	8.0E-06		25
rs1554810066	ENG ; LOC105379841	0.925	0.160	9	127824414	frameshift variant	ATCGGTGCGG/-	delins			4
rs1057517944	ACVRL1	0.882	0.160	12	51920816	stop gained	C/T	snv	4.0E-06		3
rs886039506	LOC105379841 ; ENG	0.882	0.160	9	127829770	stop gained	G/A	snv			3
rs863223414	ACVRL1	0.925	0.120	12	51913237	missense variant	G/A;C	snv			2
rs267606783	ENG	0.925	0.120	9	127854354	start lost	A/C;G	snv			2
rs878853659	ENG	0.925	0.120	9	127843246	splice acceptor variant	C/T	snv			2
rs121918400	ENG ; LOC105379841	0.925	0.120	9	127824960	stop gained	G/A;C;T	snv	8.0E-06		2
rs1554810378	ENG ; LOC105379841	0.925	0.120	9	127825722	missense variant	A/G	snv			2
rs373842615	LOC102723566 ; ENG	0.925	0.120	9	127819662	splice acceptor variant	T/C	snv	4.2E-06		2
rs863223538	LOC102723566 ; ENG	0.925	0.120	9	127818220	missense variant	C/T	snv	4.0E-06		2
rs1060501410	LOC105379841 ; ENG	0.925	0.120	9	127824800	missense variant	C/T	snv			2
rs1329127701	LOC105379841 ; ENG	0.925	0.120	9	127824304	splice region variant	C/T	snv			2
rs1554810408	LOC105379841 ; ENG	0.925	0.120	9	127825792	inframe deletion	CGCCACTCGAGC/-	delins			2
rs878853657	LOC105379841 ; ENG	0.925	0.120	9	127826586	missense variant	C/G	snv			2
rs886039505	LOC105379841 ; ENG	0.925	0.120	9	127829686	splice donor variant	C/T	snv			2
rs1555152440	ACVRL1	1.000	0.120	12	51913136	frameshift variant	-/T	delins			1
rs1555153354	ACVRL1	1.000	0.120	12	51916191	missense variant	G/A	snv			1
rs1554813783	ENG	1.000	0.120	9	127854288	splice donor variant	C/T	snv			1
rs116330805	ENG ; LOC102723566	1.000	0.120	9	127818296	missense variant	C/T	snv	1.2E-03	3.0E-03	1
rs121918401	ENG ; LOC102723566	1.000	0.120	9	127819934	missense variant	C/A;T	snv	8.0E-06		1
rs1434169817	ENG ; LOC102723566	1.000	0.120	9	127819624	missense variant	G/A	snv		7.0E-06	1
rs1554809450	ENG ; LOC102723566	1.000	0.120	9	127819627	stop gained	G/A	snv			1
rs1554810506	ENG ; LOC105379841	1.000	0.120	9	127826625	frameshift variant	T/-	del			1
rs1564457752	ENG ; LOC105379841	1.000	0.120	9	127829683	splice region variant	T/C	snv			1