DisGeNET - a database of gene-disease associations

List of associated variants

endometrial adenoacanthoma, C0279763

Source: CURATED ×

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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
rs79184941	FGFR2	0.617	0.600	10	121520163	missense variant	G/A;C	snv	5.6E-05; 4.0E-06		18
rs1057519045	FGFR2	0.851	0.160	10	121498522	missense variant	T/G	snv			6
rs121913476	FGFR2	0.851	0.080	10	121498520	missense variant	A/C;T	snv			5
rs121918506	FGFR2	0.882	0.080	10	121496701	missense variant	T/C;G	snv			3
rs1057519794	EGFR	0.925	0.080	7	55173927	missense variant	G/A	snv			1
rs1057519795	FGFR2	1.000		10	121488002	missense variant	T/C	snv			1
rs1057519796	FGFR2	1.000		10	121496546	missense variant	A/T	snv			1
rs1057519797	FGFR2	1.000		10	121496705	missense variant	C/T	snv			1
rs1057519798	FGFR2	1.000		10	121498528	missense variant	T/C	snv			1
rs1057519799	FGFR2	1.000		10	121498556	missense variant	C/A;G;T	snv			1
rs1057519800	FGFR2	1.000		10	121498562	missense variant	C/A;G;T	snv			1
rs1057519801	PIK3R2	1.000		19	18167251	missense variant	A/G	snv			1