DisGeNET - a database of gene-disease associations

List of associated variants

Esophageal Atresia, C0014850

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
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs587783446	CHD7	0.763	0.280	8	60850546	stop gained	C/T	snv			19
rs104893648	MYCN	0.882	0.320	2	15945883	missense variant	G/A;T	snv			4
rs755001161	FGFR2	0.925	0.120	10	121538612	missense variant	G/A	snv	4.0E-06	1.4E-05	2
rs104893805	SOX2 ; SOX2-OT	0.925	0.160	3	181712581	missense variant	G/C;T	snv			2
rs779000620	MYCNOS ; MYCN	1.000	0.080	2	15942288	missense variant	C/G	snv	4.2E-06	7.0E-06	1