DisGeNET - a database of gene-disease associations

List of associated variants

Corneal Dystrophy, Lattice Type IIIA, C1837974

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
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
rs267607109	TGFBI	0.827	0.160	5	136056754	missense variant	C/A	snv			5
rs121909214	TGFBI	1.000	0.080	5	136056736	missense variant	T/C	snv			1