DisGeNET - a database of gene-disease associations

List of associated variants

Esophageal Varices, C0014867

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
rs12979860	IFNL4	0.547	0.520	19	39248147	intron variant	C/T	snv		0.39	84
rs28929474	SERPINA1	0.708	0.320	14	94378610	missense variant	C/G;T	snv	2.8E-05; 1.1E-02		37
rs2071746	HMOX1	0.708	0.320	22	35380679	intron variant	A/T	snv		0.49	18
rs17580	SERPINA1	0.776	0.160	14	94380925	missense variant	T/A	snv	2.3E-02	2.9E-02	14
rs886039902	ANKRD11	0.851	0.360	16	89284130	frameshift variant	TTTTT/-;T;TTTT	delins			6