DisGeNET - a database of gene-disease associations

List of associated variants

Familial Amyloid Polyneuropathy, Type V, C0155127

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
rs121909210	TGFBI	0.708	0.200	5	136046406	missense variant	C/A;T	snv	4.0E-06; 4.0E-06		15
rs121909211	TGFBI	0.724	0.200	5	136046407	missense variant	G/A;T	snv	4.0E-05		15
rs121909208	TGFBI	0.724	0.240	5	136056780	missense variant	C/T	snv		7.0E-06	13
rs121909209	TGFBI	0.763	0.160	5	136056781	missense variant	G/A	snv			9
rs121909715	GSN	0.790	0.160	9	121310819	missense variant	G/A;T	snv	4.0E-06		8
rs121909215	TGFBI	0.790	0.200	5	136060898	missense variant	G/A	snv			7
rs121909212	TGFBI	0.807	0.160	5	136055770	missense variant	C/A;G;T	snv	3.2E-04; 3.2E-05; 3.6E-05		6
rs1052006472	TGFBI	0.827	0.200	5	136060907	missense variant	A/G	snv			5
rs267607109	TGFBI	0.827	0.160	5	136056754	missense variant	C/A	snv			5
rs201928238	CA2	0.851	0.160	8	85480683	missense variant	G/A	snv	1.4E-04	8.4E-05	4
rs267607110	TGFBI	0.851	0.160	5	136056769	missense variant	C/A	snv			4
rs756283153	AGT	0.882	0.160	1	230710465	missense variant	T/C;G	snv	4.0E-06; 4.0E-06		3
rs709932	SERPINA1	0.882	0.160	14	94382864	missense variant	C/T	snv	0.16	0.12	3
rs121909216	TGFBI	0.882	0.200	5	136055795	missense variant	T/G	snv			3
rs1050842080	TGFBI	0.925	0.160	5	136056697	missense variant	T/G	snv			2
rs1204100257	TGFBI	0.925	0.160	5	136046453	synonymous variant	C/T	snv	2.4E-05	7.0E-05	2
rs200201691	TGFBI	0.925	0.160	5	136060900	missense variant	G/A	snv	2.4E-04	8.4E-04	2
rs746351550	TGM2	0.925	0.160	20	38146789	missense variant	G/A;T	snv	1.6E-05; 4.0E-06		2
rs188677757	TGFBI	1.000	0.120	5	136055773	missense variant	A/G;T	snv	1.9E-03; 4.0E-06		1